Congenital Muscular Dystrophies

Congenital Muscular Dystrophies (CMDs) are present from birth and the symptoms usually become apparent within the first few months of life. They are nearly always inherited by autosomal recessive transmission. This means that one copy of the faulty gene is inherited from each parent who are themselves carriers but do not necessarily have the disease.

Patients' symptoms include early onset hypotonia in the muscles (floppiness), weakness, delayed motor development and contractures of the joints  (tightness).

There are many forms of CMD including:

• Ullrich CMD and Bethlem myopathy
• Merosin deficient CMD
• Rigid spine sydrome

The Muscular Dystrophy Campaign and Cure-CMD are excellent sources of more information.