Hereditary Myopathy Limited to Females

Henson, Thomas E.; Muller, Jans; DeMyer, William

doi:10.1001/archneur.1967.00470270016003

Cited by 15 publications

(1 citation statement)

References 33 publications

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“…Another explanation is an autosomal dominant inheritance. Henson et al (1967) reported hereditary myopathy limited to females and suggested an autosomal dominant mode of inheritance with the expression limited to females. In their patients, the proband and her sisters developed muscle weakness after the third decade and the rate of progression was slow.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic studies of muscular dystrophy in young girls

Yoshioka¹,

Itagaki

Saida

et al. 1986

Clinical Genetics

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During the years 1971‐81, we treated 7 girls with clinical features suggestive of Duchenne dystrophy. Muscle weakness developed at 1.5 or at 5–8 years and progressed rapidly. Two girls were in wheel‐chairs in their teens. Muscle atrophy began in the proximal parts of the lower extremities and pseudohypertrophy of the calf occurred in all patients. Serum creatine phosphokinase (CPK) activity was moderately to highly elevated in all cases and EMG showed a moderate to marked myopathic pattern. Chromosomal studies showed normal finding in the five examined. Mental retardation (IQ 37–73) was present in four. Consanguinity was present in 3 out of the 7 cases. Two mothers showed elevated levels of CPK and myopathic patterns on EMG. In addition, one mother had slight muscle weakness at the age of 42 and another had prominent pseudohypertrophy of the calf. Sex‐linked recessive inheritance might be considered here, because carriers of autosomal recessive type never showed elevated levels of CPK or mild myopathic symptoms. The other five of our seven might be cases of autosomal recessive inheritance, because the mothers had normal serum CPK levels and in 2 families there was a consanguinity.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic studies of muscular dystrophy in young girls

Yoshioka¹,

Itagaki

Saida

et al. 1986

Clinical Genetics

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Adult‐onset autosomal dominant limb‐girdle muscular dystrophy

Chutkow

Heffner

Kramer

et al. 1986

Annals of Neurology

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We describe a kindred with a rare autosomal dominant myopathy limited to the limb-girdle muscles, beginning insidiously any time from the late second through the sixth decades and followed by slow progression. Pelvifemoral precedes scapulohumeral weakness, and proximal appendicular involvement antedates limited distal paresis. Expressivity varies and includes an asymptomatic myopathy (preclinical or subclinical) and a nonmanifesting carrier state that extends well into the eighth decade. A variety of nonspecific changes are present in muscle on light, enzyme histochemical, and electron microscopic examination; of these changes, "rimmed" or autophagic vacuoles are the most characteristic. We identified one very similar previously reported genealogy. The similarities between the two unrelated families clearly establish this dystrophic process as a distinct genetic entity; their differences suggest genetic heterogeneity.

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Limb girdle muscular dystrophy: Description of a phenotype

Stübgen

1994

Muscle and Nerve

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The phenotype is reported of 20 patients with autosomal recessive or sporadic, pelvifemoral limb girdle muscular dystrophy (LGMD). Selective wasting of muscles was observed at the moderately advanced stage of illness. The pattern of weakness was uniform. Attention to clinical detail allowed the identification of a phenotype different from a hypothetical scheme of LGMD based on previous literature, and other causes of limb girdle weakness. These patients may represent yet another nosologic entity within the autosomal recessive dystrophies; molecular genetic studies are awaited. A limited magnetic resonance imaging (MRI) study of muscle was of little consequence. Although additional detail was obtained, no pathognomonic distribution of the dystrophic process was observed; interindividual variation existed even among closely matched siblings. The severity of MRI signal change did not consistently correlate with the degree of weakness in an individual. When a diagnosis is uncertain, however, the added detail may be useful.

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Hereditary Myopathy Limited to Females

Cited by 15 publications

References 33 publications

Clinical and genetic studies of muscular dystrophy in young girls

Clinical and genetic studies of muscular dystrophy in young girls

Adult‐onset autosomal dominant limb‐girdle muscular dystrophy

Limb girdle muscular dystrophy: Description of a phenotype

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