Myofibrillar Myopathy Mimicking Polyneuropathy

A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on needle EMG. Tests for acquired and genetic cau...

Full description

Saved in:
Bibliographic Details
Published inCase reports in neurology Vol. 12; no. 1; pp. 97 - 102
Main Authors Bourque, Pierre R., Breiner, Ari, Warman-Chardon, Jodi
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.2020
Karger Publishers
Subjects
Ankle
Atrophy
Case Report
Case reports
distal myopathy
Electromyography
Muscular dystrophy
Mutation
myofibrillar myopathy
Pain
polyneuropathy
Distal myopathy
Myofibrillar myopathy
Polyneuropathy
Muscular dystrophy
Online AccessGet full text

Cover

More Information
Summary:A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on needle EMG. Tests for acquired and genetic causes of polyneuropathy were unrevealing. The patient’s first-degree cousin, with a much different clinical phenotype had been diagnosed with myofibrillar myopathy. Our patient was eventually found to carry the same myotilin c.179C>T p.Ser60Phe mutation. Muscle MRI was helpful in delineating clinically unsuspected involvement of paraspinal and pelvi-femoral muscles, as well as showing marked myopathic fatty infiltration of distal leg muscles. The association of neuropathy and myopathy is a recognized feature of myofibrillar myopathy. In some patients with unexplained foot drop, whole-body muscle MRI and a dedicated genetic mutation testing strategy may help reveal a diagnosis of genetic myopathy.
Bibliography:Drs. Bourque and Breiner are equal first authors.
ISSN:1662-680X
1662-680X
DOI:10.1159/000506193