Muscular dystrophy

Last updated: Friday, 06, August, 2010
CausesAppropriate Tests

Characterised clinically by age of onset, gender, severity, pattern of muscle involvement and inheritance.

CK - degree of elevation varies with the type (very high in Duchenne) and lessens as muscle destruction progresses. Muscle biopsy may assist in diagnosis and in the assessment of the stage of the disease.

Duchenne/Becker 

X-linked disorders.

Molecular genetics - individual genetic disorders: not all Duchenne/Becker abnormalities can be identified with available techniques.

Most carriers of Duchenne dystrophy have increased CK levels and some are symptomatic.

Emery Dreifuss

 X-linked disorder - molecular genetics - genetic disorders.

Myotonic 

Autosomal dominant - molecular genetics - genetic disorders. 

Facioscapulohumeral 

Autosomal dominant disorder.

Limb girdle

  • Duchenne-like 

Autosomal recessive disorder.

  • Erb (late onset) 

Variable inheritance.

  • Oculopharyngeal 

Molecular genetics - genetic disorders - mitochondrial DNA studies.