Facioscapulohumeral muscular dystrophy (FSHD): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Facioscapulohumeral muscular dystrophy (FSHD): investigations. This is done to assess the impact of disease interventions.

Muscle magnetic resonance imaging (MRI)

  • This is done to assess the impact of disease interventions
  • It may also predict FSHD in asymptomatic or severe cases

Systemic assessments

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References

  1. Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics 2008; 5:601-606.
  2. Tawil R, Kissel JT, Heatwole C, et al; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology 2015; 85:357-364.
  3. Wohlgemuth M, Horlings CGC, van der Kooi EL, et al. Respiratory function in facioscapulohumeral muscular dystrophy 1. Neuromuscul Disord 2017; 27:526-530.
  4. Moreira S, Wood L, Smith D, et al. Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. J Neurol 2017; 264:1271-1280.
  5. Tawil R, van der Maarel S, Padberg GW, van Engelen BG. 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2010; 20:471-475. 
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