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 the condition; however, the actual number is expected to range between 50 and 100 genes. CMT affects mainly muscle strength distally in the lower limbs. The impact on sensory function is variable, although loss of balance and pain occurs. Pes cavus, hammertoes, and kyphoscoliosis are common features. The disease phenotype is quite variable, but most CMT patients are situated in the benign side within the spectrum of the peripheral neuropathies. Although onset usually happens in the two first decades of life, most patients have a slowly progressing disease2-4. However, there are patients with a more severe disease phenotype carrying genetic mutations that seems to be prone for such clinical presentation5. Even patients with benign manifestations of CMT have functional impairment that may be accompanied by physical limitations, disability, and negative impact on quality of life as a whole4,6.