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Muscle Disease

Muscle disease may be investigated or monitored by:

  • Blood tests (muscle enzymes CPK [creatine phosphokinase], AST [aspartate aminotransferase], ALT [alanine aminotransferase], LDH [lactate dehydrogenase])
  • Imaging (US, MRI, capillaroscopy)

US and especially MRI of muscles are valuable tools in detecting muscle disease and can differentiate between activity and damage. Nail fold capillary changes correlate strongly with disease activity in inflammatory muscle disease - Nail fold capillaroscopy is a useful, non-invasive investigation. Changes of the finger nail fold capillaries reflect microvascular abnormalities in many rheumatological conditions (see pREMS - hands).

  • Genetic tests 
  • Electromyogram 
  • Tissue biopsy 
  • Genetic tests. This involves analysing the DNA of the blood cells to see whether there is a mutation (fault) in the genes. There are several types of muscular dystrophy and each of them is caused by a mutation in a different gene. DNA testing for the different type of muscular dystrophy are often only available in specialised centres. In Duchenne muscular dystrophies, the DNA is analysed to see whether there is a mutation in the dystrophin gene and if so, where it occurs. DNA analysis can also be used to identify carriers of Duchenne muscular dystrophy. This is important as carriers are often asymptomatic but can pass the condition on to their offspring.
  • Electromyogram Measures the muscle’s response to stimulation of its nerve supply (nerve conduction study) and examines the electrical activity of the muscles (needle electrode examination). This test is helpful to differentiate whether muscle weakness is due to a muscle disease or a nerve disease.
  • Tissue or muscle biopsy. During this test a small piece of muscle tissue is removed and sent to a pathology lab. The sample is analysed for changes in the structure of muscle cells (eg size of muscle cells and atrophic/dystrophic appearance) and to study the expression of different proteins involved in muscle structure and function. Muscle biopsy is not required to diagnose Duchenne muscular dystrophy which is diagnosed by genetic testing. However a muscle biopsy can still help to diagnose other types of muscle disease.
  • Muscle strength - proximal weakness may be observed (see pREMS - hips). Examples of waddling gait or Gower's sign for proximal weakness are available. 
  • A video to demonstrate Gower's sign is available.

Muscle disease includes a spectrum of inherited myopathies, inflammatory disease, endocrine and metabolic causes. Hypothyroidism and parathyroid disease can present with myalgia and proximal weakness - the muscle enzymes can be elevated.  Osteomalacia can also cause muscle weakness and muscle pain. 

A number of infections (e.g. influenza, coxsackie B) can result in a muscle inflammatory response (myositis). In addition, myositis may be part of a number of systemic inflammatory conditions (e.g. juvenile dermatomyositis, juvenile systemic lupus erythematosus and systemic sclerosis/mixed connective tissue disease).

Inherited myopathies - there are many.  Duchenne Muscular Dystrophy [DMD] (X Linked recessive) results from deletions of the dystrophin gene leading to the absence or severe reduction in dystrophin protein levels - this protein is primarily found in skeletal muscle and cardiac muscle, with smaller amounts found in nerve cells.  Lack of dystrophin leads to muscle fibre necrosis and damaged muscle fibres replaced by fatty tissue which can result in bulky muscles (so-called pseudo-hypertrophy and often noted at the calves). The diagnosis is suspected clinically and confirmed with raised muscle enzymes (creatine phosphokinase, CPK) and genetic tests (which can also be used to detect carriers - mothers - in families). Creatine phosphokinase is abundant in skeletal muscle and when muscles are damaged, CPK leaks into the blood. In DMD the CPK is typically raised 10-100 fold; normal CPK levels exclude DMD.  Some children with DMD may also have learning difficulties and speech delay. DMD must be considered in boys with delayed walking (by 18 months), waddling gait, frequent falls, or speech delay. Mutations can be sporadic (in about 50% of cases) so there may not be a family history. The prognosis is variable and although cure is not yet possible, many children have improved clinical outcomes with early referral to specialist teams. Clinical trials are in progress. 

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