Facioscapulohumeral muscular dystrophy (FSHD): variant phenotypes

Evidence-based neurology checklist on facioscapulohumeral muscular dystrophy (fshd): variant phenotypes: Variant FSHD phenotypes Facial sparing: this is associated with less severe motor disability Progressive external ophthalmoplegia (PEO) phenotype Bilateral foot drop phenotype Severe early…

Variant FSHD phenotypes

  • Facial sparing: this is associated with less severe motor disability
  • Progressive external ophthalmoplegia (PEO) phenotype
  • Bilateral foot drop phenotype
  • Severe early onset: with deafness and Coats disease (retinopathy)
  • Isolated axial myopathy: with bent spine (camptocormia)
  • Predominant lower limb weakness presentation: weak foot extensors, thigh, and calf muscles
  • Dysphagia
  • Tongue atrophy
  • Dystonia: case report

Childhood FSHD

References

  1. Ropper AH, Brown RH. Principles of Neurology. Eighth edition. McGraw Hill New York 2005 p1218.
  2. He JJ, Lin XD, Lin F, et al. Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy. Eur J Neurol 2018; 25:356-364. 
  3. Felice KJ, North WA, Moore SA, Mathews KD. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology. 2000; 54:1927-1931.
  4. Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve 2019; 59:711-713.
  5. Jordan B, Eger K, Koesling S, Zierz S. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol 2011; 258:866-873.
  6. And 10 more. Subscribe to see the full list

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