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Charcot-Marie-Tooth disease
Charcot–Marie–Tooth disease 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
Prevalence
1-5 / 10 000
Age of Onset
ICD-10
G60.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause damage to the peripheral nerves—the nerves that transmit information and signals from the brain and spinal cord to and from the rest of the body, as well as sensory information such as touch back to the spinal cord and brain. CMT can also directly affect the nerves that control the muscles. Progressive muscle weakness typically becomes noticeable in adolescence or early adulthood, but the onset of the disease can occur at any age. Because longer nerves are affected first, symptoms usually begin in the feet and lower legs and then can affect the fingers, hands, and arms. Most individuals with CMT have some amount of physical disability, although some people may never know they have the disease. CMT is one of the most common inherited neurological disorders, affecting an estimated 126,000 individuals in the United States and 2.6 million people worldwide. Nearly all cases are inherited.
5 Facts you should know
FACT
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine
FACT
CMT is the acronym for Charcot-Marie-Tooth disease, named after the three physicians who first described it: Drs. Jean-Martin Charcot and Pierre Marie (both from France) and Howard Henry Tooth (of the United Kingdom)
FACT
There are over 40 types of Charcot-Marie-Tooth disease
FACT
Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet
FACT
CMT almost never affects brain function
Interest over time
Google searches
Common signs & symptoms
Abnormality of the pharynx
Abnormality of the voice
Ataxia
Decreased nerve conduction velocity
Distal amyotrophy
Distal muscle wasting
EMG abnormality
Gait disturbance
Impaired pain sensation
Currrent Treatments
Medications
Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain.
Surgery
If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can't improve weakness or loss of sensation.
Physical therapy
Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss.
Occupational therapy
Weakness in the arms and hands can cause difficulty with gripping and finger movements, such as fastening buttons or writing.
Orthopedic devices
Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability.
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A | All randomised patients with Charcot-Marie-Tooth Type 1A (CMT1A) who completed the primary study CLN-PXT3003-02, i.e. treatment with PXT3003 or placebo, are eligible to continue in the extension study CLN-PXT3003-03. | Phase 3 | Active, not recruiting | Drug: PXT3003 | More Info |
| Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients | The purpose of this study is to determine whether PXT3003 is effective and safe in the treatment of Charcot-Marie-Tooth disease - Type 1A. This double-blind study will assess in parallel groups 1 dose of PXT3003 compared to Placebo in CMT1A patients treated for 15 months. | Phase 3 | Recruiting | Drug: (RS)-baclofen, naltrexone hydrochloride and D-sorbitol|Drug: Placebo | More Info |
| Effectiveness of Nerve Glide Exercises on Cubital Tunnel Syndrome | The objective of this study is to determine if nerve glide exercises in patients with cubital tunnel syndrome can improve pain, paraesthesias and reduce the need for future surgery. | Phase 2 | Recruiting | Other: Standard Conservative Treatment|Other: Nerve Gliding Exercises | More Info |
Top Treatments in Research
| Charcot-Marie-Tooth disease | Class/Mechanism of Action | Development Status | Company | Clinical Studies | More Information |
|---|---|---|---|---|---|
| PXT3003 | PXT3003 is a novel fixed-dose synergistic combination of baclofen, naltrexone and sorbitol formulated as an oral solution given twice a day. The three individual components of PXT3003 were selected to downregulate the overexpression of PMP22 protein | Phase 3 | Pharnext SA | More Info | More Info |
| Nerve Gliding Exercises | The objective of this study is to determine if nerve glide exercises in patients with cubital tunnel syndrome can improve pain, paraesthesias and reduce the need for future surgery. | Phase 2 | NYU Langone Medical Center | More Info | More Info |