A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich’s Ataxia: is there any association between Friedreich’s ataxia and Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

Charcot–Marie–Tooth disease: Genetics, epidemiology and complications

Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...

Charcot - Marie - Tooth disease ( CMT )

[Charcot-Marie-Tooth disease and bilateral vitritis].

CASE REPORT We describe a patient diagnosed with Charcot-Marie-Tooth disease, with a 4 months history of bilateral decreased visual acuity and floaters. On examination, he had severe bilateral vitreous opacity and sectoral diffuse vascular sheathing. It could not be linked to some underlying aetiology and did not respond to oral steroids. CONCLUSIONS Publications relating to ocular findings i...