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Related Experiment Video

Updated: Apr 22, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

G Ricci, M Zatz, R Tupler1

  • 1Miogen Lab, Department of Life Sciences, University of Modena and Reggio Emilia, via Giuseppe Campi, 287, 41125 Modena, Italy.

Current Molecular Medicine
|October 18, 2014
PubMed
Summary

Facioscapulohumeral muscular dystrophy (FSHD) diagnosis via D4Z4 repeat count is unreliable. Genetic factors beyond the 4q35 locus influence FSHD risk, necessitating re-evaluation of diagnostic markers.

Keywords:
D4Z4 reduced allelediagnostic criteriafacioscapulohumeral muscular dystrophygenetic counselinggenetic heterogeneitygenotype-phenotype correlationmolecular testmuscle disease

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuromuscular Disorders

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy.
  • Diagnosis traditionally relies on detecting reduced D4Z4 repeats at 4q35.
  • Clinical variability and exceptions challenge current diagnostic standards.

Purpose of the Study:

  • To re-evaluate the diagnostic significance of D4Z4 reduced alleles (DRA) in FSHD.
  • To investigate factors influencing FSHD risk beyond the 4q35 locus.
  • To address discrepancies between genetic markers and clinical presentation in FSHD.

Main Methods:

  • Analysis of FSHD families with diverse clinical and genetic profiles.
  • Genetic assessment of D4Z4 alleles and associated haplotypes.
  • Correlation of genetic findings with clinical manifestation of FSHD.

Main Results:

  • The D4Z4 repeat count at 4q35 is a common polymorphism, not a definitive FSHD marker.
  • FSHD risk for DRA carriers depends on additional genetic factors.
  • The 4q35 locus alone is insufficient for predicting FSHD development.

Conclusions:

  • Current DNA testing for FSHD requires re-evaluation due to its limited predictive value.
  • Additional genetic factors significantly influence FSHD pathogenesis.
  • Further research is crucial for understanding FSHD complexity and improving diagnostics.