Treatment SEPN1-related myopathy

At present, there is no cure for any form of muscular dystrophy. There are ways, described below, to alleviate the symptoms of the condition and prevent complications.

Physiotherapy can slow the progression of contractures. An initial physiotherapy assessment at the time of the diagnosis should be followed by regular exercise and check-ups. The main aim of physiotherapy is to keep the muscles as active as possible and to prevent or slow the progression of joint contractures. People with SEPN1-related myopathy are encouraged to remain as active as possible; swimming is a particularly good form of exercise.

Occupational therapists can also help by providing orthoses, such as splints, long leg callipers and a wheelchair as necessary.

If curvature of the spine (scoliosis) occurs, a spinal brace may help to improve posture and delay deterioration of the curvature. In some cases, surgical intervention (scoliosis surgery) may be needed.

Children and adults with SEPN1-related myopathy should ideally be followed regularly in a specialist neuromuscular clinic. This would give them access to physiotherapy, orthotic, respiratory, orthopaedic, spinal and genetic specialists as needed.