Orrell RW. Diagnosing and managing muscular dystrophy. Practitioner 2012;256 (1754):21-24

Diagnosing and managing muscular dystrophy

20 Sep 2012Pais-up subscribers

Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. Muscular dystrophy may present at any age from perinatal to old age. The muscular dystrophies all have a genetic basis, although not all causes have been identified. Patients may present in primary care undiagnosed, or with a diagnosis and established disability when transferring practice. The development of clinical symptoms is usually gradual, and the earliest features may be difficult to identify and determine. With established disease the presence of muscle weakness and wasting is clear. In children, the presentation may be delayed walking or poor performance in sporting activity. In children and adults presenting symptoms may include: difficulty raising from a squat;difficulty raising from a chair; difficulty lifting arms above the head; poor balance; drooping eyelids; joint contractures.

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