A Q&A with Tahseen Mozaffar, MD
Tahseen Mozaffar, MD, is a neurologist and director of the ALS & Neuromuscular Center at the University of California-Irvine. He’s also a leading world expert on GNE myopathy, a form of muscular dystrophy that affects an average of one person per million worldwide.
GNE myopathy is caused by mutations in the GNE gene, which is responsible for a step in the production of a sugar called sialic acid. This results in decreased attachment of sialic acid groups to skeletal muscle cells, which is thought to be why the disorder leads to muscle atrophy and weakness.
GNE myopathy is an autosomal recessive disorder, meaning it is inherited when both parents contribute a mutated gene. Genetic testing for GNE myopathy is available as part of the gene panels for neuromuscular diseases.
We spoke with Dr. Mozaffar to learn more about this disorder.
To read the full article visit mda.org