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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Facioscapulohumeral Muscular Dystrophy

Jeffrey M Statland, Rabi Tawil

    Continuum (Minneapolis, Minn.)
    |December 7, 2016
    PubMed
    Abstract

    Insights

    Facioscapulohumeral muscular dystrophy (FSHD) has two types, FSHD1 and FSHD2, both causing toxic DUX4 protein expression. Research now focuses on drug development and clinical trials for this epigenetic disease.

    Area of Science:

    • Neurology
    • Genetics
    • Epigenetics

    Background:

    • Facioscapulohumeral muscular dystrophy (FSHD) is a genetically heterogeneous neuromuscular disorder.
    • Understanding its molecular pathogenesis is crucial for developing effective treatments.

    Observation:

    • FSHD involves two distinct genetic types (FSHD1 and FSHD2) that converge on the expression of the toxic DUX4 protein.
    • FSHD1 results from D4Z4 repeat loss on chromosome 4q, leading to DUX4 derepression.
    • FSHD2 arises from a deletion-independent mechanism, also causing DUX4 derepression, often involving SMCHD1 mutations.

    Findings:

    • Both FSHD types require permissive 4q polymorphisms for DUX4 expression due to its lack of a polyadenylation signal.
    • FSHD is an epigenetic disease where severity correlates with D4Z4 units and methylation.
    • FSHD1 exhibits dominant inheritance, while FSHD2 shows digenic inheritance.

    Implications:

    • Recent guidelines provide standards of care for FSHD patients.
    • Identification of therapeutic targets is driving research towards drug development and clinical trial planning for FSHD.

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