Congenital Muscular

Dystrophy
Introduction
• The congenital muscular dystrophies are a group of muscle conditions which
usually show symptoms at a very early age. In the great majority of cases of
congenital muscular dystrophy the initial symptoms are present at birth or in the
first few months.
• Hypotonia
• Contractures
• Respiratory problems
• In some children who do not have contractures the first problems are only noted
after a few months because of difficulties in holding the head or delay in learning
how to sit unaided, stand or walk.
 Inheritance

• The CMDs are caused by genetic defects that affect important muscle proteins.
Most forms of CMD are inherited in an autosomal recessive pattern.
• ECM
• Glycoproteins
• Many CMDs are due to mutations in glycoproteins. Loss of glycoproteins due to
mutation interferes with normal muscle function. A consequence of most CMD-
causing mutations is increased susceptibility to cellular injury from normal
contraction, and/or a reduction in the ability to repair damage.
 Types and Symptoms
• muscle weakness/ atrophy
• poor motor control
• inability to sit or stand without support
• scoliosis
• foot deformities
• trouble swallowing
• respiratory problems
• vision problems
• speech problems
• intellectual impairment
• CMD with abducted thumbs
• Walker Warbug Syndrome
• Ulrich congenital muscular dystrophy
• CMD with cerberall atrophy
Rehabilitation and it’s challenges
• Treatment is aimed at the specific symptoms and is highly specialized
• A team of specialists are required
• Occupational Therapy
• Speech therapy
• Swallowing studies
• Use of devices for mobility
• Surgeries to correct skeletal abnormalities
• Overnight sleep studies
• Regular monitoring of the heart
• Genetic counselling
• Psycho-social support