Limb girdle muscular dystrophy: Description of a phenotype

Abstract

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.

Sarcoglycanopathy: Clinical and histochemical characteristics in 66 patients

“…The hip adductors, and flexors of hip, knee and arm were earliest and most affected muscles. The hip abductor sign, previously reported in childhood onset gamma-SG [35,36] and in adults, [23,26] was indeed observed in certain patients in our series, but it was not consistently documented in the medical records. A larger group has been reported to have prominent distal muscle involvement in a report from India but these were predominantly older patients.…”

Limb Girdle Muscular Dystrophy: An Interval Study of Weakness and Functional Impairment

“…Our patients formed a clinically homogeneous group based on ancestry (Afrikaner), lifelong residence in a restricted region of the country (Soutpansberg region of the northern Transvaal province in South Africa), a characteristic phenotype, and common myopathological findings. 13 The molecular mechanism of dystrophy in our patients was not established, so no further subclassification could be made. However, the genetic defect has not been established in all patients with LGMD.…”

Limb girdle muscular dystrophy: A prospective follow-up study of functional impairment

“…An activities of daily living (ADL) scale, b. The phenotype has been described in detail 21 : all patients were weak in a symmetrical limb meanwhile, assesses disability across multiple functional domains. An evaluation can be based on selfgirdle and proximal limb distribution in various degrees of severity without facial involvereport by patients or on performance of required tasks in a simulated home environment.…”