Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture

K Tanaka; T Yamada; H Kikuchi; Y Mitsunaga; H Furuya; J Kira

doi:10.1111/j.1600-0404.1999.tb00739.x

Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture

Acta Neurol Scand. 1999 Sep;100(3):199-201. doi: 10.1111/j.1600-0404.1999.tb00739.x.

Authors

K Tanaka¹, T Yamada, H Kikuchi, Y Mitsunaga, H Furuya, J Kira

Affiliation

¹ Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

PMID: 10478586
DOI: 10.1111/j.1600-0404.1999.tb00739.x

Abstract

We herein describe a Japanese family suffering from autosomal dominant limb-girdle muscular dystrophy showing a later onset and a predilection for males. All patients developed a plantar flexion contracture of the ankles when no distal muscular weakness was evident. The serum creatine kinase activity was remarkably elevated to 55 times the normal value. These clinical features suggest a novel phenotype.

Publication types

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

MeSH terms

Adult
Age of Onset
Ankle Joint / pathology*
Biopsy
Contracture / diagnosis
Contracture / etiology*
Contracture / genetics
Family Health
Gait
Genes, Dominant
Humans
Japan
Male
Middle Aged
Muscle, Skeletal / pathology
Muscular Dystrophies / complications*
Muscular Dystrophies / diagnosis
Muscular Dystrophies / genetics*
Necrosis
Pedigree
Phenotype
Sex Factors