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Case Reports: Unusual association of diseases/symptoms
Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap?
  1. Dario Calisi,
  2. Matteo A De Rosa,
  3. Mirella Russo and
  4. Stefano L Sensi
  1. Department of Neuroscience, Imaging and Clinical Sciences, Gabriele d'Annunzio University of Chieti and Pescara, Chieti, Italy
  1. Correspondence to Prof Stefano L Sensi; ssensi{at}uci.edu

Abstract

Facio-scapulo-humeral dystrophy (FSHD) is a common muscular dystrophy featuring progressive weakness, mostly involving facial muscles and the scapular cingulum. FSHD is an autosomal-dominant inherited disease driven by the contraction of the D4Z4 region of chromosome 4. Patients with FSHD have a high life expectancy, about 20% of FSHD subjects need wheelchairs in their 50s, and extramuscular involvement is rare, however, no epidemiological studies have been carried out on this data.

Our case describes a man affected by FSHD who, in his 60s, developed atypical Parkinsonism diagnosed as progressive supranuclear palsy (PSP).

FSHD symptoms can hide other neuromuscular diseases developed on ageing. This case highlights the importance of considering possible overlaps with other neurodegenerative diseases.

  • Movement disorders (other than Parkinsons)
  • Neuromuscular disease
  • Neurology

https://doi.org/10.1136/bcr-2022-253820

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: DC, MADR, MR and SLS. The following authors gave final approval of the manuscript: DC, MADR, MR and SLS.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.