Rare Medical News

Spotlight On

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


1-5 / 10 000

33,100 - 165,500

US Estimated

51,350 - 256,750

Europe Estimated

Age of Onset





Autosomal dominant


Autosomal recessive




X-linked dominant


X-linked recessive


5 Facts you should know



Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine



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)



There are over 40 types of Charcot-Marie-Tooth disease



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



CMT almost never affects brain function

Charcot-Marie-Tooth disease is also known as...

Charcot-Marie-Tooth disease is also known as:

  • CMT
  • Hereditary motor and sensory neuropathy
  • HMSN

What’s your Rare IQ?

Which of these country singers recently announced that he suffers from the degenerative nerve condition, Charcot-Marie-Tooth disease?

Common signs & symptoms

Abnormality of the pharynx

Abnormality of the voice


Decreased nerve conduction velocity

Distal amyotrophy

Distal muscle wasting

EMG abnormality

Gait disturbance

Abnormal walk

Impaired pain sensation

Decreased pain sensation

Currrent Treatments


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.


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

TitleDescriptionPhasesStatusInterventionsMore Information
Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1AAll 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 3Active, not recruitingDrug: PXT3003More Info
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A PatientsThe 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 3RecruitingDrug: (RS)-baclofen, naltrexone hydrochloride and D-sorbitol|Drug: PlaceboMore Info
Effectiveness of Nerve Glide Exercises on Cubital Tunnel SyndromeThe 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 2RecruitingOther: Standard Conservative Treatment|Other: Nerve Gliding ExercisesMore Info

Top Treatments in Research

Charcot-Marie-Tooth diseaseClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
PXT3003PXT3003 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 proteinPhase 3Pharnext SAMore InfoMore Info
Nerve Gliding ExercisesThe 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 2NYU Langone Medical CenterMore InfoMore Info