Congenital myopathy
Congenital Myopathy
Congenital myopathy (/kənˈdʒɛnɪtəl maɪˈɒpəθi/) is a term for any muscle disorder present at birth. The term is derived from the Greek words kongenitos meaning "born with" and myo meaning "muscle", and pathos meaning "suffering".
Definition
Congenital myopathies are a group of genetic muscle disorders characterized clinically by muscle weakness and hypotonia, and histologically by specific structural abnormalities in muscle fibers.
Types
There are several types of congenital myopathies, including:
- Central Core Disease - Characterized by the appearance of the muscle fibers having a central core devoid of normal staining.
- Nemaline Myopathy - Characterized by the presence of rod-like structures (nemaline bodies) in muscle fibers.
- Centronuclear Myopathy - Characterized by a high proportion of muscle fibers with centrally placed nuclei.
- Myotubular Myopathy - A subtype of centronuclear myopathy, characterized by muscle weakness and respiratory problems.
Symptoms
The symptoms of congenital myopathies vary depending on the specific type, but generally include muscle weakness, respiratory problems, and delays in motor skills.
Diagnosis
Diagnosis of congenital myopathies typically involves a combination of clinical examination, family history, genetic testing, and muscle biopsy.
Treatment
There is currently no cure for congenital myopathies. Treatment is supportive and aims to manage symptoms and improve quality of life.
See Also
References
External links
- Medical encyclopedia article on Congenital myopathy
- Wikipedia's article - Congenital myopathy
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