Calpainopathy
Calpainopathy
Calpainopathy (pronounced kal-PAY-no-path-ee) is a type of muscular dystrophy that is caused by mutations in the CAPN3 gene. The term is derived from the name of the gene (calpain 3) and the Greek word for disease (-pathy).
Etymology
The term "calpainopathy" is a combination of "calpain", the protein encoded by the CAPN3 gene, and "-pathy", a suffix derived from the Greek "pathos" meaning suffering or disease. The term was coined to describe the disease caused by mutations in the CAPN3 gene.
Definition
Calpainopathy, also known as Limb-girdle muscular dystrophy type 2A (LGMD2A), is a condition characterized by progressive weakness and wasting of the muscles of the hips and shoulders (the limb-girdle muscles). It is one of the most common types of autosomal recessive limb-girdle muscular dystrophy.
Symptoms
The symptoms of calpainopathy typically begin in late childhood or adolescence and progress slowly. They include difficulty running, climbing stairs, or rising from a seated position. As the condition progresses, affected individuals may require the use of a wheelchair.
Genetics
Calpainopathy is caused by mutations in the CAPN3 gene, which provides instructions for making a protein called calpain 3. This protein plays a crucial role in the function of muscle cells. Mutations in the CAPN3 gene lead to a reduction or absence of calpain 3, which impairs the function of muscle cells and leads to the symptoms of calpainopathy.
Diagnosis
Diagnosis of calpainopathy is based on the clinical symptoms, family history, and confirmed by genetic testing. Muscle biopsy may also be performed to look for characteristic changes in muscle tissue.
Treatment
There is currently no cure for calpainopathy. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, assistive devices, and medications to manage symptoms.
See also
External links
- Medical encyclopedia article on Calpainopathy
- Wikipedia's article - Calpainopathy
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