Bethlem myopathy is a very rare form of progressive muscular dystrophy caused by mutations in one of three genes that encode for portions of collagen type 6 (COL6A1COL6A2or COL6A3).

The symptoms of Bethlem myopathy include slowly progressive muscle weakness and joint stiffness, most often affecting the fingers, wrists, elbows, and ankles. Symptoms may appear at any time from before birth to adulthood. As the disease progresses, some patients may experience weakness in the muscles that control breathing, which may require oxygen at night.

There is currently no cure for Bethlem myopathy, but there are treatments to reduce symptoms and maximize patients’ quality of life. These options are summarized below.

Physiotherapy

Physiotherapy can help patients maintain strength and mobility through special exercise programs. Patients can perform the exercise programs on their own or under the supervision of a trained physiotherapist, depending on their age and ability. For patients who are still in school, physical therapists can work with the school’s physical education personnel to ensure they know what exercises are safe for the patient.

Physical therapists also can prescribe mobility aids for patients, including orthotic braces, canes, wheelchairs, and scooters. About 66% of patients need some sort of mobility aid by age 50.

It is recommended that patients with Bethlem myopathy stay as active as they can, for as long as they can, to slow the progression of the disease. Swimming is an especially good form of exercise, as it places less strain on the joints than high impact forms of exercise such as running.

Occupational therapy

Occupational therapists can teach patients easier ways to carry out daily tasks at home, work, and school. This can be as simple as changing the type of toothbrush a patient uses to make brushing easier. Similar changes can be made to clothing fasteners to make dressing easier.

Patients who are unable to type may find voice-to-text software helpful. For patients who are still in school, occupational therapists can work with the school to ensure patients can move to and from their classrooms in time. This might mean rearranging a class schedule, or ensuring that elevators or ramps are available if patients have trouble with stairs.

Surgical interventions

Some patients with Bethlem myopathy may develop tightening of the Achilles tendon (the tendon at the back of the ankle), which can make walking difficult. There is a surgery to treat this symptom, if necessary; it involves lengthening the tendon by making small cuts along the tendon so that it stretches.

Due to the weakness of the muscles that support the spine, some patients with Bethlem myopathy also may develop scoliosis (curvature of the spine). There are corrective surgeries to treat scoliosis, most involve the insertion of rods and pins to hold the spine straight.

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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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