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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

Prevelance

1-5 / 10 000

33,100 - 165,500

US Estimated

51,350 - 256,750

Europe Estimated

Age of Onset

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ICD-10

G60.0

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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5 Facts you should know

FACT

1

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

FACT

2

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

3

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

FACT

4

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

5

CMT almost never affects brain function

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

Charcot-Marie-Tooth disease

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

Ataxia

Decreased nerve conduction velocity

Distal amyotrophy

Distal muscle wasting

EMG abnormality

Gait disturbance

Abnormal walk

Impaired pain sensation

Decreased pain sensation

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: PXT3003Click here for more information
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: PlaceboClick here for more information
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 ExercisesClick here for more information

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 SAClick here for more informationClick here for more information
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 CenterClick here for more informationClick here for more information