Facioscapulohumeral Muscular Dystrophy Type 1A

  • Corrado Angelini


Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive weakness of the facial, shoulder, and arm muscles. FSHD is the third most frequent form of myopathy, with a prevalence of about 1:20,000, although this is likely to be an underestimate. The onset of symptoms occurs between 3 and 50 years of age. Early onset of the disease is associated with more widespread muscle weakness. Facial weakness (difficulties whistling, smiling, and closing the eyes) is an early feature, and it is followed by shoulder muscle involvement (difficulties lifting the arms, scapular winging, and sloping shoulders). Muscle involvement progressively affects wrist extension, the abdominal muscles, knee, and foot extensor muscles. Sensory, cardiac, and neurological signs are rare. The pattern of clinical manifestations is variable, and asymmetrical involvement is frequent. A clinical score of typical signs has been developed.

Molecular diagnosis is based on the identification of a deletion within the D4Z4 repeat region at 4q35 region. The identification of several of the genes involved (FRG1, SLC25A4, and DUX4) suggested that the disease results from alterations in cell differentiation. There is a correlation between the number of repeats and the severity of the disease. Penetrance is incomplete, since about 30% of mutant individual do not manifest the disease.


Retinopathy Winging scapulae Asymmetric muscle involvement Facial involvement 


  1. 1.
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    Scionti I, Greco F, Ricci G, et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2012;90:628–35.CrossRefPubMedPubMedCentralGoogle Scholar
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    Ricci G, Scionti I, Sera F, et al. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain. 2013;136:3408–17.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2018

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

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