Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block

Wan Fang, Chin Chang Huang, Nai Shin Chu, Chi Jen Chen, Chin Song Lu, Chun Chieh Wang

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace- maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhood- onset autosomal-dominant LGMD with heart block and that prevention of sudden death in these patients is important.

Original languageEnglish
Pages (from-to)286-292
Number of pages7
JournalMuscle and Nerve
Volume20
Issue number3
DOIs
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Limb-Girdle Muscular Dystrophies
Heart Block
Muscle Weakness
Muscles
Skeletal Muscle
Exercise
Atrioventricular Block
Quadriceps Muscle
Bradycardia
Sudden Death
Vacuoles
Age of Onset
Siblings
Magnetic Resonance Imaging
Biopsy
Enzymes
Hamstring Muscles

Keywords

  • atrioventricular block
  • autosomal dominant
  • limb-girdle muscular dystrophy
  • muscle magnetic resonance imaging

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this

Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. / Fang, Wan; Huang, Chin Chang; Chu, Nai Shin; Chen, Chi Jen; Lu, Chin Song; Wang, Chun Chieh.

In: Muscle and Nerve, Vol. 20, No. 3, 1997, p. 286-292.

Research output: Contribution to journalArticle

Fang, Wan ; Huang, Chin Chang ; Chu, Nai Shin ; Chen, Chi Jen ; Lu, Chin Song ; Wang, Chun Chieh. / Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. In: Muscle and Nerve. 1997 ; Vol. 20, No. 3. pp. 286-292.
@article{eb97b8b516154ec0b52e6b6c75108b28,
title = "Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block",
abstract = "We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace- maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhood- onset autosomal-dominant LGMD with heart block and that prevention of sudden death in these patients is important.",
keywords = "atrioventricular block, autosomal dominant, limb-girdle muscular dystrophy, muscle magnetic resonance imaging",
author = "Wan Fang and Huang, {Chin Chang} and Chu, {Nai Shin} and Chen, {Chi Jen} and Lu, {Chin Song} and Wang, {Chun Chieh}",
year = "1997",
doi = "10.1002/(SICI)1097-4598(199703)20:3<286::AID-MUS4>3.0.CO;2-7",
language = "English",
volume = "20",
pages = "286--292",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

TY - JOUR

T1 - Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block

AU - Fang, Wan

AU - Huang, Chin Chang

AU - Chu, Nai Shin

AU - Chen, Chi Jen

AU - Lu, Chin Song

AU - Wang, Chun Chieh

PY - 1997

Y1 - 1997

N2 - We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace- maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhood- onset autosomal-dominant LGMD with heart block and that prevention of sudden death in these patients is important.

AB - We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace- maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhood- onset autosomal-dominant LGMD with heart block and that prevention of sudden death in these patients is important.

KW - atrioventricular block

KW - autosomal dominant

KW - limb-girdle muscular dystrophy

KW - muscle magnetic resonance imaging

UR - http://www.scopus.com/inward/record.url?scp=0031035819&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031035819&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1097-4598(199703)20:3<286::AID-MUS4>3.0.CO;2-7

DO - 10.1002/(SICI)1097-4598(199703)20:3<286::AID-MUS4>3.0.CO;2-7

M3 - Article

VL - 20

SP - 286

EP - 292

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 3

ER -