Facioscapulohumeral muscular dystrophy (FSHD): investigations

Evidence-based neurology checklist on facioscapulohumeral muscular dystrophy (fshd): investigations: 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

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

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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