Main Image

About Bethlem myopathy

What is Bethlem myopathy?

Bethlem myopathy is a rare, inherited disorder that affects the muscles. It is characterized by muscle weakness, joint contractures, and a distinctive pattern of skin changes. It is caused by mutations in the COL6A1 gene, which is responsible for producing a protein called collagen type VI. Symptoms usually begin in childhood and can range from mild to severe. Treatment typically involves physical therapy, occupational therapy, and medications to help manage symptoms.

What are the symptoms of Bethlem myopathy?

The main symptoms of Bethlem myopathy include:

-Muscle weakness, especially in the shoulders, hips, and upper arms
-Muscle Stiffness and pain
-Joint contractures
-Muscle wasting
-Difficulty walking
-Difficulty climbing stairs
-Difficulty lifting objects
-Difficulty with fine motor skills
-Cardiac arrhythmias
-Respiratory problems
-Gastrointestinal problems
-Hearing loss
-Skin abnormalities

What are the causes of Bethlem myopathy?

Bethlem myopathy is a rare genetic disorder caused by mutations in the COL6A1, COL6A2, or COL6A3 genes. These genes provide instructions for making proteins that are part of a larger protein complex called collagen type VI. Collagen type VI is found in the connective tissue that supports the muscles and other organs. Mutations in these genes lead to the production of abnormal collagen type VI, which can cause the muscle weakness and other features of Bethlem myopathy.

What are the treatments for Bethlem myopathy?

The treatments for Bethlem myopathy include physical therapy, occupational therapy, orthopedic surgery, and medications. Physical therapy can help improve muscle strength and range of motion. Occupational therapy can help with activities of daily living, such as dressing and bathing. Orthopedic surgery may be necessary to correct joint deformities or to release tight muscles. Medications such as corticosteroids, immunosuppressants, and muscle relaxants may be prescribed to reduce inflammation and improve muscle function.

What are the risk factors for Bethlem myopathy?

The primary risk factor for Bethlem myopathy is having a family history of the disorder. Other risk factors include being of Dutch or Japanese descent, being female, and having a mutation in the COL6A1, COL6A2, or COL6A3 genes.

Is there a cure/medications for Bethlem myopathy?

Yes, there are medications and treatments available for Bethlem myopathy. Treatment options include physical therapy, occupational therapy, medications to reduce muscle spasms, and surgery to correct joint deformities. In some cases, stem cell therapy may be used to help improve muscle strength and function.