Muscular dystrophy

Causes

Appropriate Tests

 

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

Creatine kinase - 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.

Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.

Duchenne/Becker muscular dystrophy

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.

Myotonia

Autosomal dominant - Molecular genetics - genetic disorders.

Facioscapulohumeral

Autosomal dominant disorder.

Limb girdle

 

  • Duchenne-like

Autosomal recessive disorder.

  • Erb (late onset)

Variable inheritance.

  • Oculopharyngeal

Variable inheritance.