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Updated: May 8, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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[Facioscapulohumeral muscular dystrophy type 2].

S Sacconi1, C Desnuelle

  • 1Centre de référence maladies neuromusculaires, hôpital Archet 1, CHU de Nice, BP 3079, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 3, France; UMR CNRS 7277, Inserm 1091, faculté de médecine, Tour Pasteur, avenue de Valombrose, 06189 Nice cedex, France.

Revue Neurologique
|August 24, 2013
PubMed
Summary
This summary is machine-generated.

Facioscapulohumeral muscular dystrophy (FSHD) has two types: FSHD1 and FSHD2. Both share similar symptoms and epigenetic changes, suggesting a common pathway involving DUX4 gene expression, paving the way for unified treatments.

Keywords:
DUX4Digenic transmissionDystrophie musculaire facio-scapulo-humérale de type 2EpigenomicsFacioscapulohumeral muscular dystrophyHypomethylationHypométhylationHérédité digéniqueÉpigenetique

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Area of Science:

  • Genetics and Epigenetics
  • Molecular Biology
  • Neuromuscular Disorders

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) presents clinically as two distinct types: FSHD1 and FSHD2.
  • FSHD1 is typically caused by a D4Z4 contraction on chromosome 4, while FSHD2 involves a different, yet unidentified, (epi)genetic defect.
  • Both FSHD types exhibit similar clinical phenotypes and epigenetic alterations, suggesting a shared underlying pathophysiology.

Purpose of the Study:

  • To differentiate the diagnostic criteria for FSHD1 and FSHD2.
  • To investigate the hypothesized common pathophysiological pathway involving DUX4 gene expression in both FSHD types.
  • To explore potential unified therapeutic strategies for FSHD.

Main Methods:

  • Genetic analysis of the D4Z4 locus, including D4Z4 contraction detection.
  • Epigenetic profiling, specifically D4Z4 methylation testing on chromosomes 4 and 10.
  • Clinical phenotyping of patients diagnosed with FSHD.

Main Results:

  • FSHD1 diagnosis is confirmed by D4Z4 contraction on a permissive chromosome 4.
  • FSHD2 diagnosis requires a non-contracted D4Z4 allele, a permissive chromosome 4QA, and profound hypomethylation of D4Z4 on chromosomes 4 and 10.
  • A common pathway involving DUX4 toxic transcript expression due to chromatin relaxation is hypothesized for both FSHD1 and FSHD2.

Conclusions:

  • FSHD2 likely involves digenic transmission, requiring both a 4QA chromosome and D4Z4 hypomethylation.
  • Identifying the specific genes and epigenetic mechanisms in FSHD2 is crucial for improving diagnostic rates.
  • The shared pathophysiology between FSHD1 and FSHD2 opens avenues for developing novel, broadly applicable therapeutic interventions.