Muscular dystrophy

What it means

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

Muscular dystrophy can be demonstrated by muscle biopsy.

In everyday care

Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:

Rare diseases that can present with this28

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Congenital muscular dystrophy · Muscle biopsy shows dystrophic changes