Bethlem myopathy
Bethlem Myopathy
Bethlem myopathy (pronounced: BETH-lem my-OP-uh-thee) is a rare, inherited neuromuscular disorder. It is named after the hospital in London where it was first described, the Bethlem Royal Hospital.
Etymology
The term "Bethlem myopathy" is derived from the Bethlem Royal Hospital, where the condition was first identified and described. The term "myopathy" comes from the Greek words "myo" meaning muscle and "pathos" meaning disease.
Definition
Bethlem myopathy is a type of congenital muscular dystrophy that primarily affects skeletal muscles, which are used for movement. It is characterized by muscle weakness and joint stiffness (contractures) that can restrict movement and worsen over time.
Symptoms
The symptoms of Bethlem myopathy can vary widely in severity and may include muscle weakness, joint contractures, and respiratory problems. Some people may also have skin abnormalities such as follicular hyperkeratosis and keloid scars.
Causes
Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes. These genes provide instructions for making a protein that is essential for the normal function of connective tissues in the body.
Diagnosis
Diagnosis of Bethlem myopathy is based on a clinical examination, the symptoms present, and may be confirmed by genetic testing. Other tests such as a muscle biopsy or an electromyogram (EMG) may also be used.
Treatment
There is currently no cure for Bethlem myopathy. Treatment is focused on managing the symptoms and may include physical therapy, occupational therapy, and the use of assistive devices such as braces or wheelchairs.
Prognosis
The prognosis for individuals with Bethlem myopathy varies. Some people may have a normal life expectancy, while others may experience a progressive decline in muscle strength and mobility.
See also
External links
- Medical encyclopedia article on Bethlem myopathy
- Wikipedia's article - Bethlem myopathy
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