Muscle slowness in a family with nemaline myopathy

Inge M P Pauw-Gommans; Karin H L Gerrits; Arnold de Haan; Baziel G M van Engelen

doi:10.1016/j.nmd.2006.05.003

Muscle slowness in a family with nemaline myopathy

Neuromuscul Disord. 2006 Aug;16(8):477-80. doi: 10.1016/j.nmd.2006.05.003. Epub 2006 Jun 21.

Authors

Inge M P Pauw-Gommans¹, Karin H L Gerrits, Arnold de Haan, Baziel G M van Engelen

Affiliation

¹ Institute for Fundamental and Clinical Human Movement Sciences, Institute of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

PMID: 16793268
DOI: 10.1016/j.nmd.2006.05.003

Abstract

All patients of a large family with nemaline myopathy complained of slowness in movement. We confirmed this clinical complaint physiologically by showing lower contractile speed in quadriceps muscle. Electrically evoked contractions of the quadriceps muscle elicited a lower rate of relaxation and a tendency for slower torque generation. Here, we demonstrate for the first time slow muscle characteristics as a physiological correlate for the clinical complaint of slowness.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Biopsy
Chromosomes, Human, Pair 15 / genetics
Electric Stimulation
Female
Genetic Predisposition to Disease / genetics
Humans
Isometric Contraction / genetics
Male
Middle Aged
Muscle Contraction / genetics*
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology*
Myopathies, Nemaline / diagnosis
Myopathies, Nemaline / genetics
Myopathies, Nemaline / physiopathology*
Neurologic Examination
Quadriceps Muscle / metabolism
Quadriceps Muscle / pathology
Quadriceps Muscle / physiopathology
Reaction Time / genetics
Time Factors
Torque