Moléstia de Charcot-Marie-Tooth: conceito clínico-patológico atual

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 ( CMT )

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...

Quality of life in patients with Charcot-Marie- Tooth disease type 1A Análise da qualidade de vida de pacientes com a doença de Charcot-Marie-Tooth tipo 1A

Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy (HMSN) is the most common inherited neuropathy with an estimated prevalence of 40 in 100,000 people1. It belongs to a large, heterogeneous, and complex group of genetically determined neuropathies with autosomal dominant, autosomal recessive, or X-linked inheritance. At least 51 genes have already been associated with ...