Distal myopathy with rimmed vacuoles
Distal Myopathy with Rimmed Vacuoles Distal myopathy with rimmed vacuoles (DMRV) is a rare genetic disorder characterized by progressive muscle weakness, primarily affecting the distal muscles of the limbs. This condition is also known as Nonaka myopathy, named after the Japanese neurologist who first described it.
Clinical Features[edit | edit source]
Patients with DMRV typically present with muscle weakness that begins in the distal muscles, such as those in the hands and feet. Over time, the weakness may progress to involve more proximal muscles. The onset of symptoms usually occurs in young adulthood, but can vary.
Symptoms[edit | edit source]
- Progressive muscle weakness
- Difficulty with fine motor skills
- Foot drop
- Gait abnormalities
Pathophysiology[edit | edit source]
DMRV is caused by mutations in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. The deficiency in sialic acid production leads to the formation of rimmed vacuoles in muscle fibers, which are a hallmark of the disease.
Diagnosis[edit | edit source]
Diagnosis of DMRV is based on clinical examination, family history, and muscle biopsy findings. Genetic testing can confirm mutations in the GNE gene.
Muscle Biopsy[edit | edit source]
A muscle biopsy typically shows:
- Rimmed vacuoles
- Variation in fiber size
- Endomysial fibrosis
Treatment[edit | edit source]
Currently, there is no cure for DMRV. Treatment focuses on managing symptoms and maintaining muscle function. Physical therapy and occupational therapy can be beneficial.
Research[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms of DMRV and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.
See Also[edit | edit source]
- Myopathy
- GNE gene
- Muscle biopsy
- Nonaka, I., et al. "Distal myopathy with rimmed vacuoles: a clinicopathologic study." *Neurology* 1981.
- Nishino, I., et al. "GNE myopathy: current update and future therapy." *Journal of Neurology* 2015.
NIH genetic and rare disease info[edit source]
Distal myopathy with rimmed vacuoles is a rare disease.
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Contributors: Prab R. Tumpati, MD
