Distal hereditary motor neuropathy, type V (DMHN5) is caused by changes (mutations) in either the BSCL2 or the GARS gene. The BSCL2 gene provides instructions for making a protein called seipin that works in many cells and tissues, including nerve cells that control muscle movement (motor neurons) and the brain. Mutations in the BSCL2 gene likely change the structure of the seipin protein. The misshapen protein may build up in nerve cells, causing damage that leads to muscle weakness. Interestingly, some of the same mutations in the BSCL2 gene can cause DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome in members of the same family. A different set of 24 mutations in BSCL2 that do not cause DMHN5 can cause a very different genetic condition called congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 2.
The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase. This enzyme is found in all cell types and plays an important role in making proteins. Mutations in the GARS gene probably do not lead to a misshapen product, but may instead lower the amount of protein product made. This can result in reduced ability of the nerve signals to move. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet. Other mutations in GARS can cause another genetic condition called Charcot-Marie-Tooth disease type 2D.
Other Questions About Distal hereditary motor neuropathy, type V
- Will my children get distal hereditary motor neuropathy, type V?
- Why does a gene mutation cause distal hereditary motor neuropathy, type 5?
- Where can I read personal stories of other families affected by Distal Hereditary Motor Neuropathy, type V?
- When am I going to die from distal hereditary motor neuropathy, type V?
- What specialist doctors should I see with Distal Hereditary Motor Neuropathy type 5?
