Charcot-Marie-Tooth disease type 2A (CMT 2A) is one of the most common axonal forms of CMT. It is characterized by great clinical heterogeneity (age of onset of symptoms, severity of the condition, existence of visual, hearing impairment, etc.) and genetic (many abnormalities in the MFN2 gene identified, dominant and recessive transmission possible).
- The Inherited Neuropathy Consortium has published clinical and genetic data from a cohort of 196 patients with CMT 2A followed for one to two years. This is the largest cohort published to date. Their work provides valuable information both for facilitating the interpretation of variants of the MFN2 gene, describing the natural history of the disease and establishing the protocol for a future clinical trial.
- Teams from the reference centres for neuromuscular diseases in southwestern France have published data on 13 children with CMT 2A, followed between 2008 and 2015. They observed
significant clinical heterogeneity with 3 children progressing towards a loss of motor autonomy in 10 to 11 years, while the disease remained relatively stable in 8 other children.
