Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome

Muscle & Nerve
Michael KottlorsFranz X Glocker

Abstract

Several subtypes of facioscapulohumeral muscular dystrophy (FSHD) with atypical clinical presentation have been described. We report a new, distinct phenotype with progressive bent spine syndrome solely affecting the paraspinal muscles. Magnetic resonance imaging study of the lumbar spine revealed marked atrophy of the paraspinal muscles. The diagnosis was confirmed by DNA testing, which revealed shortened restriction fragments of the D4Z4 repeat on haplotype A in connection with a positive family history.

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Citations

Aug 2, 2013·Der Nervenarzt·F X Glocker, U G Berninger
Dec 18, 2010·Journal of Neurology·Berit JordanStephan Zierz
Feb 22, 2012·Journal of Neurology·Karen M DohertyAndrew J Lees
May 25, 2012·Journal of Clinical Neuromuscular Disease·Teerin Liewluck, Brent P Goodman
Nov 23, 2013·Journal of Clinical Neuromuscular Disease·Victoria H LawsonW David Arnold
Apr 21, 2012·European Neurology·István GátiAnne-Marie Landtblom
Sep 10, 2013·Revue neurologique·E Salort-CampanaS Attarian
Aug 22, 2012·Muscle & Nerve·Anhar HassanNeeraj Kumar
Jun 18, 2016·Journal of Parkinson's Disease·N G MargrafW J Schulz-Schaeffer
Dec 7, 2016·Continuum : Lifelong Learning in Neurology·Jeffrey M Statland, Rabi Tawil
Mar 16, 2011·Muscle & Nerve·Constantinos PapadopoulosPanagiota Manta
Mar 19, 2019·Intractable & Rare Diseases Research·Junren LuYing Zhang

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