Young adult-onset distal hereditary motor neuropathy

DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960).

OMIM