Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic muscular dystrophy is a genetic disorder that causes progressive muscle weakness; its name comes from the fact that some muscles, especially in the legs, appear enlarged even though they are actually losing strength.

How it shows up: It usually begins in childhood with difficulty running, climbing stairs, or getting up from the floor, frequent falls, and a particular way of rising by pushing on the legs. The calves may appear bulky.

Origin: It is hereditary in cause, linked to abnormalities in the genes that produce proteins necessary for muscle integrity.

Which specialist treats it? The follow-up is coordinated by the neurologist and the genetics specialist, with support from rehabilitation. In the case of progressive muscle weakness in a child, going in early with these professionals allows for a comprehensive evaluation and appropriate support.