Hereditary inclusion body myopathy
=Hereditary Inclusion Body Myopathy =
Hereditary Inclusion Body Myopathy (HIBM) is a group of rare genetic disorders characterized by progressive muscle weakness and wasting. These conditions are also known as GNE myopathy, distal myopathy with rimmed vacuoles, or Nonaka myopathy.
Overview[edit | edit source]
HIBM typically presents in early adulthood and progresses slowly over time. The disease primarily affects the muscles of the lower limbs, but can eventually involve other muscle groups.
Genetics[edit | edit source]
HIBM is most commonly caused by mutations in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. Sialic acid is important for muscle function, and its deficiency leads to the symptoms observed in HIBM.
Inheritance[edit | edit source]
HIBM is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disease.
Symptoms[edit | edit source]
The primary symptoms of HIBM include:
- Progressive muscle weakness, especially in the lower limbs
- Difficulty walking and climbing stairs
- Muscle atrophy
- Foot drop
Diagnosis[edit | edit source]
Diagnosis of HIBM involves a combination of clinical evaluation, genetic testing, and muscle biopsy.
Genetic Testing[edit | edit source]
Genetic testing can confirm the presence of mutations in the GNE gene.
Muscle Biopsy[edit | edit source]
A muscle biopsy may show characteristic features such as rimmed vacuoles and inclusion bodies.
Treatment[edit | edit source]
Currently, there is no cure for HIBM, but treatment focuses on managing symptoms and improving quality of life.
Physical Therapy[edit | edit source]
Physical therapy can help maintain muscle strength and mobility.
Orthopedic Devices[edit | edit source]
Devices such as braces or orthotics can assist with mobility and support.
Research[edit | edit source]
Research is ongoing to better understand the pathophysiology of HIBM and to develop potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Hereditary inclusion body myopathy is a rare disease.
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Contributors: Prab R. Tumpati, MD
