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This is a large group of genetic diseases featuring muscle weakness and wasting (muscular dystrophy). Most are inherited in an autosomal recessive manner (both parents must have the defective gene for a child to inherit it), but some are autosomal dominant (only one parent needs to carry the bad gene to affect the child). For some of these conditions, the defective gene has been discovered, but for others, the gene is not yet known. Typically, onset of pelvic muscle weakness (difficulty standing from a sitting position without using arms, difficulty climbing stairs) starts in childhood to young adulthood. Later there is the onset of shoulder weakness with progression to significant loss of mobility or wheelchair dependence over the next 20-30 years.

Symptoms

* Muscle weakness in pelvis, hips, upper legs, shoulders

* Loss of muscle mass in the same areas, thinning of those body parts

* Low back pain

* Abnormal, sometimes waddling, gait while walking

* Later in disease, there can be facial muscle weakness

* Later in the disease, muscles of the lower legs, feet, lower arms, and hands can become weak

* Late in the disease, there can be contractures of joints (they become fixed in a contracted position)

* Palpitations or passing out spells can be caused by abnormal heart rhythms

* Sometimes the calves will look large and muscular (pseudohypertrophy), but they are actually not strong

Information from ©Muscular Dystrophy Australia