Distal Myopathies - 17/07/14

Doi : 10.1016/j.ncl.2014.04.004

Mazen M. Dimachkie, MD ^a,^⁎ , Richard J. Barohn, MD ^b
^a Neuromuscular Section, Neurophysiology Division, Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA
^b Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA

^∗Corresponding author.

Résumé

In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize are also considered, because they show prominent distal limb weakness.

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Keywords : Distal myopathy, Welander myopathy, Myoshi myopathy, Nonaka myopathy, Laing myopathy, Markesbery-Griggs myopathy, Udd distal myopathy, Myofibrillar myopathy

Plan

Key points

Approach

Classic distal myopathies

Welander Distal Myopathy: Late Adult Onset, Type 1

Tibial Muscular Dystrophy: Late Onset Distal Myopathy Type 2

Udd Late Onset Distal Myopathy Type 2a

Markesbery-Griggs Late Onset Distal Myopathy Type 2b

Nonaka Distal Myopathy: Early Adult Onset, Type 1, Distal Myopathy with Rimmed Vacuoles

Miyoshi Distal Myopathy: Early Adult Onset, Type 2

Laing Distal Myopathy: Early Onset, Type 3

Myofibrillar Myopathy

Clinical Manifestations

Clinical Manifestations with Mutations

Pathologic Alterations

Weakness Onset Variability

Distal myopathies not yet classified

AD Inheritance Late Onset Distal Myopathy

AD Weakness of Extremities

AD Adult Onset Vacuolar Distal Myopathy

AD Adult Onset Slow Progression

AD Late Onset

Other myopathies with distal weakness

Childhood Onset Distal Myopathy

Other Muscular Dystrophies

Inflammatory Myopathies

Metabolic and Congenital Myopathies

Myasthenia Gravis

This publication was supported by an Institutional Clinical and Translational Science Award, NIH/National Center for Advancing Translational Sciences Grant Number UL1TR000001. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH.