Familial muscular dystrophy of late onset

Bacon, P. A.; Smith, B.

doi:10.1136/jnnp.34.1.93

Cited by 23 publications

(10 citation statements)

References 4 publications

(8 reference statements)

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“…Despite the goitor, she was in the euthyroid state, which suggested little possibility of the presence of autoimmune thyroid disease. Quadriceps myopathy is a syndrome which shows muscular atrophy and weakness localized in the thighs (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). However, previous reports revealed weakness of other muscles in the pelvic girdles or upper extremities or EMG abnormalities without clinical symptoms (5,7,10,12) as seen in the present case.…”

Section: Discussioncontrasting

confidence: 54%

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Quadriceps Myositis.

Konagaya

Mano

1992

Intern. Med.

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A young woman with slowly progressive muscular weakness and atrophy localized in both thighs is reported. Laboratory, electromyographic and histological findings suggested that the patient suffered from chronic myositis with a background of autoimmune disorder. Quadriceps myositis is a rare condition. The previously reported cases of this disease in the literature are reviewed. (Internal Medicine 31: 926-929, 1992)

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Section: Discussioncontrasting

confidence: 54%

“…Quadriceps myopathy is a syndrome of chronic and slowly progressive atrophy and weakness of the muscle in the thigh; most cases are considered to be a myogenic disorder and some cases are thought to be neurogenic (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Of these, myositis localized in the thigh is a rare condition.…”

Section: Introductionmentioning

confidence: 99%

Quadriceps Myositis.

Konagaya

Mano

1992

Intern. Med.

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“…Bacon and Smith (1971) described a genetically determined muscular dystrophy, clinically predominant in the proximal limb muscles, but involvement of the arms was a prominent and early feature in their family. We record here the familial occurrence of clinically localized weakness predominantly involving the quadriceps and presenting in adult life.…”

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confidence: 99%

Hereditary quadriceps myopathy

Espir

Matthews

1973

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY A familial myopathy affecting a man, his three daughters, and one of his brothers is reported. The quadriceps muscle was predominantly involved, with aching pain as an early feature, and later prominent areas of hypertrophy projecting from patches of atrophy gave the quadriceps a most striking and unusual appearance. Presentation was in adult life, and the course was relatively benign, pelvic girdle and hand muscles becoming involved later. The evidence suggests a hereditary selective muscular dystrophy rather than polymyositis, although a hereditary form of spinal muscular atrophy could not be excluded entirely.

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“…Note relative sparing of latdominant inheritance is relatively rare but well docueral head of left gastrocnemius muscle (arrow). Coronal SE 400/ 19 image through middle thigh (F) confirms fatty degeneration mented 1,2,4,7,9,13,14,16,18,[22][23][24][27][28][29][30]32,33,35,37 Review of the of the gluteus medius (arrowhead) and adductor muscles.…”

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confidence: 99%

“…Note literature revealed 17 families with late-onset autorelative sparing of left gracilis muscle (arrow). Coronal SE 400/ somal-dominant LGMD 2,7,9,13,14,16,33,37 In 1976,19 image through middle calf (G) suggests fatty degeneration of Bethlem and Van Wijngaarden 4 described three famgastrocnemius and soleus muscles.…”

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confidence: 99%

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

et al. 1997

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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. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 286–292, 1997.

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Familial muscular dystrophy of late onset

Cited by 23 publications

References 4 publications

Quadriceps Myositis.

Quadriceps Myositis.

Hereditary quadriceps myopathy

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

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