- published: 09 Dec 2022
- views: 51455
Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, and peroneal muscular atrophy is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people. CMT was previously classified as a subtype of muscular dystrophy.
Signs and symptoms
Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Some people do not experience symptoms until their early thirties or forties. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.
This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/Charcot–Marie–Tooth_disease
Podcasts:
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CHARCOT MARIE TOOTH DISEASE (CMT)
. Chapters 0:00 Introduction 1:01 Causes of Charcot Marie tooth disease (CMT) 4:07 Diagnosis and treatment of Charcot Marie tooth disease (CMT) 4:51 Treatment for Charcot Marie tooth disease (CMT) Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.[3][4] It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940),[5] and the Briton Howard Henry Tooth (1856–1925).[6] There is no known cure. Care focuses on maintaining function. CMT was previously ...
published: 09 Dec 2022 -
Toward a Cure for Charcot-Marie-Tooth Disease
Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research Institute (TSRI). Her research has brought her closer to understanding a neurological disease called Charcot-Marie Tooth. Learn more at scripps.edu Thank you to the Charcot-Marie-Tooth Association for providing images.
published: 28 Jul 2016 -
VIDEO: Stopping Charcot-Marie-Tooth disease, impacts on joints
It’s a genetic condition that causes problems with the sensory and motor nerves.
published: 06 Apr 2018 -
Living with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies. The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and c...
published: 27 Oct 2017 -
Charcot Marie Tooth Syndrome for USMLE
Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment. PATHOPHYSIOLOGY Autosomal Dominant Disease as a spectrum of diseases related to myelin sheath made up of schwann cells. There are 8 different types depending on type of mutaiton. The muscles involved is the peroneal and tibial muscles. These muscles will be enlarged. This will typically show up in the USMLE as a patient who has loss of function of these muscles. It affects the ankle area and as they atrophy the anterior and lateral will look much smaller as well. CLINICAL SIGN AND SYMPTOMS Symptoms begin at 2 years such as clumsy, fall and tripping. Four types of conditions known as stork legs because the anterolateral aspect of legs are small. Pes cavus ...
published: 20 Feb 2015 -
Charcot-Marie-Tooth disease
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist neuromuscular health professionals is an introduction to the main facets of CMT and the support that is available from Muscular Dystrophy UK.
published: 02 Jun 2016 -
Advances in Charcot-Marie-Tooth Disease Research Give Hope to Patients and Their Families
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progressive disorder that causes damage to nerves in the arms and legs that control movement, slowly reducing her ability to walk and use her hands. She and her family visited Gladstone Institutes and the lab of Bruce Conklin, whose team is working on a gene editing therapy that could help her. They share their story and hopes for the future.
published: 12 Sep 2023 -
Charcot-Marie-Tooth Disease: Occupational Therapy Demonstration
Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Association (MDA), but unlike muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles. CMT patients slowly lose normal use of their extremities as nerves degenerate and muscles weaken because the affected nerves no longer stimulate the muscles. Many patients also have some loss of sensory nerve functions. Learn more about Lurie Children's Occupational Therapy program and treatment options: https://www.luriechildrens.org/en/specialties-conditions/charcot-marie-tooth-disease/
published: 04 Apr 2013 -
Charcot-Marie-Tooth disease (CMT) & Podiatry
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect motor and sensory peripheral nerves. Podiatrists may often see patients with CMT and are ideally placed to manage this condition. This video provides information on CMT and how to manage it from a podiatry perspective.
published: 28 Feb 2019 -
Charcot Marie Tooth disease
In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lateral Sclerosis), and Charcot-Marie-Tooth disease, which affects the peripheral nerve and leads to progressive paralysis of the legs and hands. - Dr. Tanya STOJKOVIC, France (Clinician) - Prof. Gabriele SICILIANO, France (Clinician) - Filippo GENOVESE, Italy (Patient testimony) #EuropeanReferenceNetwork #ERNs #EURONMD #NMD #PERIPHERALNEUROPATHY #CHARCOTMARIETOOTHDISEASE
published: 24 Jul 2023
developed with YouTube
5:41
CHARCOT MARIE TOOTH DISEASE (CMT)
- Order: Reorder
- Duration: 5:41
- Uploaded Date: 09 Dec 2022
- views: 51455
.
Chapters
0:00 Introduction
1:01 Causes of Charcot Marie tooth disease (CMT)
4:07 Diagnosis and treatment of Charcot Marie tooth disease (CMT)
4:51 Treatment...
.
Chapters
0:00 Introduction
1:01 Causes of Charcot Marie tooth disease (CMT)
4:07 Diagnosis and treatment of Charcot Marie tooth disease (CMT)
4:51 Treatment for Charcot Marie tooth disease (CMT)
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.[3][4] It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940),[5] and the Briton Howard Henry Tooth (1856–1925).[6]
There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.[3] Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammertoe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.[7]
Loss of touch sensation in the feet, ankles, and legs as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder.[8] Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.[7]
Symptoms and progression of the disease can vary. Involuntary grinding of teeth and squinting are prevalent and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. Scoliosis is common, causing hunching and loss of height. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT,[9][10] as can difficulty chewing, swallowing, and speaking (due to atrophy of vocal cords).[11] A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as severe emotional stress. Patients with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.[12]
https://wn.com/Charcot_Marie_Tooth_Disease_(Cmt)
.
Chapters
0:00 Introduction
1:01 Causes of Charcot Marie tooth disease (CMT)
4:07 Diagnosis and treatment of Charcot Marie tooth disease (CMT)
4:51 Treatment for Charcot Marie tooth disease (CMT)
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.[3][4] It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940),[5] and the Briton Howard Henry Tooth (1856–1925).[6]
There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.[3] Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammertoe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.[7]
Loss of touch sensation in the feet, ankles, and legs as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder.[8] Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.[7]
Symptoms and progression of the disease can vary. Involuntary grinding of teeth and squinting are prevalent and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. Scoliosis is common, causing hunching and loss of height. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT,[9][10] as can difficulty chewing, swallowing, and speaking (due to atrophy of vocal cords).[11] A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as severe emotional stress. Patients with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.[12]
2:20
Toward a Cure for Charcot-Marie-Tooth Disease
- Order: Reorder
- Duration: 2:20
- Uploaded Date: 28 Jul 2016
- views: 15445
Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research Institute (TSRI). Her research has brought her closer to understanding...
Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research Institute (TSRI). Her research has brought her closer to understanding a neurological disease called Charcot-Marie Tooth. Learn more at scripps.edu
Thank you to the Charcot-Marie-Tooth Association for providing images.
https://wn.com/Toward_A_Cure_For_Charcot_Marie_Tooth_Disease
Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research Institute (TSRI). Her research has brought her closer to understanding a neurological disease called Charcot-Marie Tooth. Learn more at scripps.edu
Thank you to the Charcot-Marie-Tooth Association for providing images.
- published: 28 Jul 2016
- views: 15445
2:01
VIDEO: Stopping Charcot-Marie-Tooth disease, impacts on joints
- Order: Reorder
- Duration: 2:01
- Uploaded Date: 06 Apr 2018
- views: 33585
It’s a genetic condition that causes problems with the sensory and motor nerves.
It’s a genetic condition that causes problems with the sensory and motor nerves.
https://wn.com/Video_Stopping_Charcot_Marie_Tooth_Disease,_Impacts_On_Joints
It’s a genetic condition that causes problems with the sensory and motor nerves.
- published: 06 Apr 2018
- views: 33585
3:55
Living with Charcot-Marie-Tooth Disease
- Order: Reorder
- Duration: 3:55
- Uploaded Date: 27 Oct 2017
- views: 23509
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. Th...
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.
The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.
A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.
CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male.
In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family.
https://wn.com/Living_With_Charcot_Marie_Tooth_Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.
The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.
A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.
CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male.
In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family.
- published: 27 Oct 2017
- views: 23509
8:47
Charcot Marie Tooth Syndrome for USMLE
- Order: Reorder
- Duration: 8:47
- Uploaded Date: 20 Feb 2015
- views: 123438
Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment.
PATHOPHYSIOLOGY
Autosomal...
Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment.
PATHOPHYSIOLOGY
Autosomal Dominant Disease as a spectrum of diseases related to myelin sheath made up of schwann cells. There are 8 different types depending on type of mutaiton. The muscles involved is the peroneal and tibial muscles. These muscles will be enlarged. This will typically show up in the USMLE as a patient who has loss of function of these muscles. It affects the ankle area and as they atrophy the anterior and lateral will look much smaller as well.
CLINICAL SIGN AND SYMPTOMS
Symptoms begin at 2 years such as clumsy, fall and tripping. Four types of conditions known as stork legs because the anterolateral aspect of legs are small. Pes cavus becuase of sprain ankles. Hammer Toes and Claw hand due to contractions on distal limbs. Sensory symptoms are paresthesia becuase low muscle mass compresses sensory nerves. Decrease pain because of increased pain threshold. Decreased proprioception and vibration. Progressive disorder as they go onthroughout their lives. Normal life span and ambulating. There are increase drugs (vincristine) and pregnancy.
INVESTIGATIONS
Neuroconductive Velocity is lower than sixty percen.t Sural Nerve Viopsy you will see the sural nerves is thickened because of the myelin sheath is affected. Genetic testing can be done antenatelly of the blood. Creatine kinase, EMG and Muscle biopsy is not necessary
MANAGEMENT
Supportive management with orthotic to stabilize ankle and stiff boots and provide ankle with support. Physiotherapy for stretch exercises and helps decrease frequency of ankle fractures. Surgery for ankle fusion. Avoid some drugs such as vincristine, phenytoin, carbamazepine and anesthetics.
https://wn.com/Charcot_Marie_Tooth_Syndrome_For_Usmle
Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment.
PATHOPHYSIOLOGY
Autosomal Dominant Disease as a spectrum of diseases related to myelin sheath made up of schwann cells. There are 8 different types depending on type of mutaiton. The muscles involved is the peroneal and tibial muscles. These muscles will be enlarged. This will typically show up in the USMLE as a patient who has loss of function of these muscles. It affects the ankle area and as they atrophy the anterior and lateral will look much smaller as well.
CLINICAL SIGN AND SYMPTOMS
Symptoms begin at 2 years such as clumsy, fall and tripping. Four types of conditions known as stork legs because the anterolateral aspect of legs are small. Pes cavus becuase of sprain ankles. Hammer Toes and Claw hand due to contractions on distal limbs. Sensory symptoms are paresthesia becuase low muscle mass compresses sensory nerves. Decrease pain because of increased pain threshold. Decreased proprioception and vibration. Progressive disorder as they go onthroughout their lives. Normal life span and ambulating. There are increase drugs (vincristine) and pregnancy.
INVESTIGATIONS
Neuroconductive Velocity is lower than sixty percen.t Sural Nerve Viopsy you will see the sural nerves is thickened because of the myelin sheath is affected. Genetic testing can be done antenatelly of the blood. Creatine kinase, EMG and Muscle biopsy is not necessary
MANAGEMENT
Supportive management with orthotic to stabilize ankle and stiff boots and provide ankle with support. Physiotherapy for stretch exercises and helps decrease frequency of ankle fractures. Surgery for ankle fusion. Avoid some drugs such as vincristine, phenytoin, carbamazepine and anesthetics.
- published: 20 Feb 2015
- views: 123438
6:03
Charcot-Marie-Tooth disease
- Order: Reorder
- Duration: 6:03
- Uploaded Date: 02 Jun 2016
- views: 28178
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist neuromuscular health professionals is an introduction to the main facet...
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist neuromuscular health professionals is an introduction to the main facets of CMT and the support that is available from Muscular Dystrophy UK.
https://wn.com/Charcot_Marie_Tooth_Disease
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist neuromuscular health professionals is an introduction to the main facets of CMT and the support that is available from Muscular Dystrophy UK.
- published: 02 Jun 2016
- views: 28178
5:32
Advances in Charcot-Marie-Tooth Disease Research Give Hope to Patients and Their Families
- Order: Reorder
- Duration: 5:32
- Uploaded Date: 12 Sep 2023
- views: 670
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progressive disorder that causes damage to nerves in the arms and legs that co...
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progressive disorder that causes damage to nerves in the arms and legs that control movement, slowly reducing her ability to walk and use her hands.
She and her family visited Gladstone Institutes and the lab of Bruce Conklin, whose team is working on a gene editing therapy that could help her. They share their story and hopes for the future.
https://wn.com/Advances_In_Charcot_Marie_Tooth_Disease_Research_Give_Hope_To_Patients_And_Their_Families
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progressive disorder that causes damage to nerves in the arms and legs that control movement, slowly reducing her ability to walk and use her hands.
She and her family visited Gladstone Institutes and the lab of Bruce Conklin, whose team is working on a gene editing therapy that could help her. They share their story and hopes for the future.
- published: 12 Sep 2023
- views: 670
2:01
Charcot-Marie-Tooth Disease: Occupational Therapy Demonstration
- Order: Reorder
- Duration: 2:01
- Uploaded Date: 04 Apr 2013
- views: 41851
Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Association (MDA), but unlike muscular dystrophy, in which the defect is in th...
Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Association (MDA), but unlike muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles.
CMT patients slowly lose normal use of their extremities as nerves degenerate and muscles weaken because the affected nerves no longer stimulate the muscles. Many patients also have some loss of sensory nerve functions.
Learn more about Lurie Children's Occupational Therapy program and treatment options:
https://www.luriechildrens.org/en/specialties-conditions/charcot-marie-tooth-disease/
https://wn.com/Charcot_Marie_Tooth_Disease_Occupational_Therapy_Demonstration
Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Association (MDA), but unlike muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles.
CMT patients slowly lose normal use of their extremities as nerves degenerate and muscles weaken because the affected nerves no longer stimulate the muscles. Many patients also have some loss of sensory nerve functions.
Learn more about Lurie Children's Occupational Therapy program and treatment options:
https://www.luriechildrens.org/en/specialties-conditions/charcot-marie-tooth-disease/
- published: 04 Apr 2013
- views: 41851
6:52
Charcot-Marie-Tooth disease (CMT) & Podiatry
- Order: Reorder
- Duration: 6:52
- Uploaded Date: 28 Feb 2019
- views: 53094
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect motor and sensory peripheral nerves. Podiatrists may often see patients w...
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect motor and sensory peripheral nerves. Podiatrists may often see patients with CMT and are ideally placed to manage this condition. This video provides information on CMT and how to manage it from a podiatry perspective.
https://wn.com/Charcot_Marie_Tooth_Disease_(Cmt)_Podiatry
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect motor and sensory peripheral nerves. Podiatrists may often see patients with CMT and are ideally placed to manage this condition. This video provides information on CMT and how to manage it from a podiatry perspective.
- published: 28 Feb 2019
- views: 53094
5:31
Charcot Marie Tooth disease
- Order: Reorder
- Duration: 5:31
- Uploaded Date: 24 Jul 2023
- views: 498
In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lat...
In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lateral Sclerosis), and Charcot-Marie-Tooth disease, which affects the peripheral nerve and leads to progressive paralysis of the legs and hands.
- Dr. Tanya STOJKOVIC, France (Clinician)
- Prof. Gabriele SICILIANO, France (Clinician)
- Filippo GENOVESE, Italy (Patient testimony)
#EuropeanReferenceNetwork #ERNs #EURONMD #NMD #PERIPHERALNEUROPATHY #CHARCOTMARIETOOTHDISEASE
https://wn.com/Charcot_Marie_Tooth_Disease
In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lateral Sclerosis), and Charcot-Marie-Tooth disease, which affects the peripheral nerve and leads to progressive paralysis of the legs and hands.
- Dr. Tanya STOJKOVIC, France (Clinician)
- Prof. Gabriele SICILIANO, France (Clinician)
- Filippo GENOVESE, Italy (Patient testimony)
#EuropeanReferenceNetwork #ERNs #EURONMD #NMD #PERIPHERALNEUROPATHY #CHARCOTMARIETOOTHDISEASE
- published: 24 Jul 2023
- views: 498
5:41
CHARCOT MARIE TOOTH DISEASE (CMT)
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Chapters
0:00 Introduction
1:01 Causes of Charcot Marie tooth disease (CMT)
4:07 Diagn...
published: 09 Dec 2022
CHARCOT MARIE TOOTH DISEASE (CMT)
CHARCOT MARIE TOOTH DISEASE (CMT)
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- published: 09 Dec 2022
- views: 51455
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Chapters
0:00 Introduction
1:01 Causes of Charcot Marie tooth disease (CMT)
4:07 Diagnosis and treatment of Charcot Marie tooth disease (CMT)
4:51 Treatment for Charcot Marie tooth disease (CMT)
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.[3][4] It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940),[5] and the Briton Howard Henry Tooth (1856–1925).[6]
There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.[3] Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammertoe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.[7]
Loss of touch sensation in the feet, ankles, and legs as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder.[8] Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.[7]
Symptoms and progression of the disease can vary. Involuntary grinding of teeth and squinting are prevalent and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. Scoliosis is common, causing hunching and loss of height. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT,[9][10] as can difficulty chewing, swallowing, and speaking (due to atrophy of vocal cords).[11] A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as severe emotional stress. Patients with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.[12]
2:20
Toward a Cure for Charcot-Marie-Tooth Disease
Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research ...
published: 28 Jul 2016
Toward a Cure for Charcot-Marie-Tooth Disease
Toward a Cure for Charcot-Marie-Tooth Disease
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- published: 28 Jul 2016
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Professor Xiang-Lei Yang studies proteins called tRNA synthetases at The Scripps Research Institute (TSRI). Her research has brought her closer to understanding a neurological disease called Charcot-Marie Tooth. Learn more at scripps.edu
Thank you to the Charcot-Marie-Tooth Association for providing images.
2:01
VIDEO: Stopping Charcot-Marie-Tooth disease, impacts on joints
It’s a genetic condition that causes problems with the sensory and motor nerves.
published: 06 Apr 2018
VIDEO: Stopping Charcot-Marie-Tooth disease, impacts on joints
VIDEO: Stopping Charcot-Marie-Tooth disease, impacts on joints
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- published: 06 Apr 2018
- views: 33585
It’s a genetic condition that causes problems with the sensory and motor nerves.
3:55
Living with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorde...
published: 27 Oct 2017
Living with Charcot-Marie-Tooth Disease
Living with Charcot-Marie-Tooth Disease
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- published: 27 Oct 2017
- views: 23509
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.
The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.
A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.
CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male.
In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family.
8:47
Charcot Marie Tooth Syndrome for USMLE
Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathoph...
published: 20 Feb 2015
Charcot Marie Tooth Syndrome for USMLE
Charcot Marie Tooth Syndrome for USMLE
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- published: 20 Feb 2015
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Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment.
PATHOPHYSIOLOGY
Autosomal Dominant Disease as a spectrum of diseases related to myelin sheath made up of schwann cells. There are 8 different types depending on type of mutaiton. The muscles involved is the peroneal and tibial muscles. These muscles will be enlarged. This will typically show up in the USMLE as a patient who has loss of function of these muscles. It affects the ankle area and as they atrophy the anterior and lateral will look much smaller as well.
CLINICAL SIGN AND SYMPTOMS
Symptoms begin at 2 years such as clumsy, fall and tripping. Four types of conditions known as stork legs because the anterolateral aspect of legs are small. Pes cavus becuase of sprain ankles. Hammer Toes and Claw hand due to contractions on distal limbs. Sensory symptoms are paresthesia becuase low muscle mass compresses sensory nerves. Decrease pain because of increased pain threshold. Decreased proprioception and vibration. Progressive disorder as they go onthroughout their lives. Normal life span and ambulating. There are increase drugs (vincristine) and pregnancy.
INVESTIGATIONS
Neuroconductive Velocity is lower than sixty percen.t Sural Nerve Viopsy you will see the sural nerves is thickened because of the myelin sheath is affected. Genetic testing can be done antenatelly of the blood. Creatine kinase, EMG and Muscle biopsy is not necessary
MANAGEMENT
Supportive management with orthotic to stabilize ankle and stiff boots and provide ankle with support. Physiotherapy for stretch exercises and helps decrease frequency of ankle fractures. Surgery for ankle fusion. Avoid some drugs such as vincristine, phenytoin, carbamazepine and anesthetics.
6:03
Charcot-Marie-Tooth disease
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist n...
published: 02 Jun 2016
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease
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- published: 02 Jun 2016
- views: 28178
This video featuring people affected by Charcot-Marie-Tooth disease (CMT) and specialist neuromuscular health professionals is an introduction to the main facets of CMT and the support that is available from Muscular Dystrophy UK.
5:32
Advances in Charcot-Marie-Tooth Disease Research Give Hope to Patients and Their Families
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progress...
published: 12 Sep 2023
Advances in Charcot-Marie-Tooth Disease Research Give Hope to Patients and Their Families
Advances in Charcot-Marie-Tooth Disease Research Give Hope to Patients and Their Families
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- published: 12 Sep 2023
- views: 670
Saisha is a charismatic 8-year-old girl with Charcot-Marie-Tooth disease (CMT), a progressive disorder that causes damage to nerves in the arms and legs that control movement, slowly reducing her ability to walk and use her hands.
She and her family visited Gladstone Institutes and the lab of Bruce Conklin, whose team is working on a gene editing therapy that could help her. They share their story and hopes for the future.
2:01
Charcot-Marie-Tooth Disease: Occupational Therapy Demonstration
Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Associat...
published: 04 Apr 2013
Charcot-Marie-Tooth Disease: Occupational Therapy Demonstration
Charcot-Marie-Tooth Disease: Occupational Therapy Demonstration
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- published: 04 Apr 2013
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Charcot-Marie-Tooth (CMT) is one of 40 diseases covered by the Muscular Dystrophy Association (MDA), but unlike muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles.
CMT patients slowly lose normal use of their extremities as nerves degenerate and muscles weaken because the affected nerves no longer stimulate the muscles. Many patients also have some loss of sensory nerve functions.
Learn more about Lurie Children's Occupational Therapy program and treatment options:
https://www.luriechildrens.org/en/specialties-conditions/charcot-marie-tooth-disease/
6:52
Charcot-Marie-Tooth disease (CMT) & Podiatry
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect mot...
published: 28 Feb 2019
Charcot-Marie-Tooth disease (CMT) & Podiatry
Charcot-Marie-Tooth disease (CMT) & Podiatry
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- published: 28 Feb 2019
- views: 53094
Charcot-Marie-Tooth disease (CMT) covers a group of rare genetic disorders that affect motor and sensory peripheral nerves. Podiatrists may often see patients with CMT and are ideally placed to manage this condition. This video provides information on CMT and how to manage it from a podiatry perspective.
5:31
Charcot Marie Tooth disease
In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the diffe...
published: 24 Jul 2023
Charcot Marie Tooth disease
Charcot Marie Tooth disease
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- published: 24 Jul 2023
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In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lateral Sclerosis), and Charcot-Marie-Tooth disease, which affects the peripheral nerve and leads to progressive paralysis of the legs and hands.
- Dr. Tanya STOJKOVIC, France (Clinician)
- Prof. Gabriele SICILIANO, France (Clinician)
- Filippo GENOVESE, Italy (Patient testimony)
#EuropeanReferenceNetwork #ERNs #EURONMD #NMD #PERIPHERALNEUROPATHY #CHARCOTMARIETOOTHDISEASE
Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, and peroneal muscular atrophy is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people. CMT was previously classified as a subtype of muscular dystrophy.
Signs and symptoms
Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Some people do not experience symptoms until their early thirties or forties. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.
This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/Charcot–Marie–Tooth_disease
CHARCOT MARIE TOOTH DISEASE (CMT)...
Toward a Cure for Charcot-Marie-Tooth Disease...
VIDEO: Stopping Charcot-Marie-Tooth disease, impac...
Living with Charcot-Marie-Tooth Disease...
Charcot Marie Tooth Syndrome for USMLE...
Charcot-Marie-Tooth disease...
Advances in Charcot-Marie-Tooth Disease Research G...
Charcot-Marie-Tooth Disease: Occupational Therapy ...
Charcot-Marie-Tooth disease (CMT) & Podiatry...
Charcot Marie Tooth disease...
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