Photo by camstejim from unsplash
Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN… Click to show full abstract
Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have been identified as a cause of dHMN, with an estimated frequency in undiagnosed cases of up to 10%.
Keywords:
motor neuropathies;
distal hereditary;
hereditary motor;
neuropathies mutation;
motor;
mutation spectrum
Journal Title: European Journal of Neurology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: European Journal of Neurology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!