Nemaline myopathy
Nemaline Myopathy
Nemaline myopathy (pronounced: neh-muh-leen my-uh-puh-thee) is a term for a group of rare, genetic, neuromuscular disorders that primarily affect skeletal muscles, which are used for movement. The name "nemaline" comes from the Greek word "nema," which means "thread," and "myopathy," which means "muscle disease."
Etymology
The term "nemaline" is derived from the Greek word "nema" meaning "thread" and "myopathy" from the Greek words "myo" meaning "muscle" and "pathy" meaning "disease". The name refers to the thread-like rods, or nemaline bodies, seen in muscle biopsies of individuals with this condition.
Symptoms
Symptoms of nemaline myopathy can vary greatly from person to person. Some people may have mild symptoms, while others may have severe symptoms. Common symptoms include muscle weakness, hypotonia (low muscle tone), and difficulties with respiratory function.
Types
There are six recognized forms of nemaline myopathy, which are distinguished by the severity of symptoms and the age at which they begin. These include:
- Severe congenital nemaline myopathy
- Amish nemaline myopathy
- Intermediate congenital nemaline myopathy
- Typical congenital nemaline myopathy
- Childhood-onset nemaline myopathy
- Adult-onset nemaline myopathy
Causes
Nemaline myopathy is caused by mutations in several different genes. These genes are involved in the production of proteins that are important for the normal functioning of skeletal muscles. The condition is usually inherited in an autosomal recessive manner.
Diagnosis
Diagnosis of nemaline myopathy is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. A muscle biopsy may also be performed, which can show the presence of nemaline bodies in the muscle fibers.
Treatment
There is currently no cure for nemaline myopathy. Treatment is supportive and based on the symptoms in each individual. This may include physical therapy, respiratory support, and other medical interventions to manage symptoms.
See also
External links
- Medical encyclopedia article on Nemaline myopathy
- Wikipedia's article - Nemaline myopathy
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