The unfolding spectrum of inherited distal myopathies

ABSTRACT Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early‐childhood to late‐adul...

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Bibliographic Details
Published in:Muscle & nerve 2019-03, Vol.59 (3), p.283-294
Main Authors: Milone, Margherita, Liewluck, Teerin
Format: Article
Language:English
Subjects:
Ankle
Children
distal myopathy
Etiology
Genes
multisystem proteinopathy
Muscles
myofibrillar myopathy
neuromyopathy
Proteins
rimmed vacuoles
Vacuoles
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Summary:ABSTRACT Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early‐childhood to late‐adulthood while the predominant muscle weakness can affect calf, ankle dorsiflexor, or distal upper limb muscles. A spectrum of muscle pathological changes, varying from nonspecific myopathic changes to rimmed vacuoles to myofibrillar pathology to nuclei centralization, have been noted. Likewise, the underlying molecular defect is heterogeneous. In addition, there is emerging evidence that distal myopathies can result from defective proteins encoded by genes causative of neurogenic disorders, be manifestation of multisystem proteinopathies or the result of the altered interplay between different genes. In this review, we provide an overview on the clinical, electrophysiological, pathological, and molecular aspects of distal myopathies, focusing on the most recent developments in the field. Muscle Nerve 59:283–294, 2019
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26332