Facioscapulohumeral Muscular Dystrophy: Clinical Diversity and Genetic Abnormalities in Japanese Patients

Masanori NAKAGAWA; Toshio MATSUZAKI; Itsuro HIGUCHI; Hidetoshi FUKUNAGA; Toshio INUI; Shinichiro NAGAMITSU; Hirohisa YAMADA; Kimiyoshi ARIMURA; Mitsuhiro OSAME

doi:10.2169/internalmedicine.36.333

Masanori NAKAGAWA, Toshio MATSUZAKI, Itsuro HIGUCHI, Hidetoshi FUKUNAGA, Toshio INUI, Shinichiro NAGAMITSU, Hirohisa YAMADA, Kimiyoshi ARIMURA, Mitsuhiro OSAME

Author information

Masanori NAKAGAWA
The Third Department of Internal Medicine of Kagoshima University School of Medicine
Toshio MATSUZAKI
Department of Neurology of National Sanatorium Okinawa Hospital
Itsuro HIGUCHI
The Third Department of Internal Medicine of Kagoshima University School of Medicine
Hidetoshi FUKUNAGA
Department of Neurology of National Sanatorium Mmamikyushu Hospital
Toshio INUI
Department of Neurology of National Sanatorium Tokushima Hospital
Shinichiro NAGAMITSU
Department of Pediatrics of Kurume University School of Medicine
Hirohisa YAMADA
The Third Department of Internal Medicine of Kagoshima University School of Medicine
Kimiyoshi ARIMURA
The Third Department of Internal Medicine of Kagoshima University School of Medicine
Mitsuhiro OSAME
The Third Department of Internal Medicine of Kagoshima University School of Medicine

Keywords: facioscapulohumeral muscular dystrophy (FSHD), respiratory failure, perivascular cell infiltration, phenotypic diversity, 4qter, genetic heterogeneity

JOURNAL FREE ACCESS

1997 Volume 36 Issue 5 Pages 333-339

DOI https://doi.org/10.2169/internalmedicine.36.333

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Abstract

We studied 71 Japanese individuals, 42 patients (30 familial and 12 sporadic) suspected to have facioscapulohumeral muscular dystrophy (FSHD) and 29 family members, clinically and genetically using the chromosome 4qter DNA marker p13E-11. Early onset FSHD was detected in 7 patients, tortuosity of retinal arterioles and hearing impairment in 3 patients, progressive respiratory failure in 3 patients and limb-girdle type muscular weakness in 6 patients. Thirty-six (85.7%) FSHD patients, 3 asymptomatic family members and 1 of 35 healthy volunteers showed EcoRl digestion fragments shorter than 28kb. New mutations were detected in 25% of the patients with shorter EcoRI fragment. The age of disease onset appeared younger with successive generations in 6 parent-child pairs in FSHD families. We confirmed the existence of phenotypic and genetic diversities in Japanese patients with FSHD. It is still difficult to explain the phenotypic diversity merely by the size of the abnormal EcoRl fragment detected with the p13E-11 probe.
(Internal Medicine 36: 333-339, 1997)

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