Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, the authors found that HMSNR also affects many patients in the Czech Republic. HMSNR is one of the most frequent types of IPN in this country and seems to be twice as frequent as HMSNL. Pronounced lower limb atrophies and severe deformities often lead to walking inability in even young patients, but hands are usually only mildly affected even after many years of disease duration. The group of 20 patients with HMSNR presented here is the first report concerning the prevalence of HMSNR from central Europe.
Brožková DŠ, Haberlová J, Mazanec R, et al. HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. Clin Genet. 2016 Jan 29. [Epub ahead of print]