Inclusion body myopathy 2
Inclusion Body Myopathy 2 (pronounced as in-kloo-zhuhn bod-ee my-op-uh-thee too), also known as IBM2 or GNE myopathy, is a rare genetic disorder characterized by progressive muscle weakness and wasting.
Etymology
The term "Inclusion Body Myopathy 2" is derived from the presence of abnormal protein aggregates, or "inclusion bodies," found in muscle tissues of affected individuals. The number "2" denotes it as a distinct condition from other types of inclusion body myopathies.
Symptoms
The primary symptom of Inclusion Body Myopathy 2 is progressive muscle weakness, particularly in the lower limbs. This can lead to difficulties with mobility, including walking and climbing stairs. Over time, muscle weakness may also affect the upper limbs and facial muscles.
Causes
Inclusion Body Myopathy 2 is caused by mutations in the GNE gene. This gene provides instructions for making an enzyme that is involved in the synthesis of a molecule called sialic acid. Sialic acid is important for muscle development and function.
Diagnosis
Diagnosis of Inclusion Body Myopathy 2 typically involves a combination of clinical examination, family history, and genetic testing. Muscle biopsy may also be performed, which can reveal the characteristic inclusion bodies in muscle tissue.
Treatment
There is currently no cure for Inclusion Body Myopathy 2. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, assistive devices for mobility, and regular monitoring of respiratory function.
Related Terms
External links
- Medical encyclopedia article on Inclusion body myopathy 2
- Wikipedia's article - Inclusion body myopathy 2
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