The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands

Abstract

A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD). An attempt was made to include all known cases of LGMD in the Netherlands. Out of the reported 200 patients, 105 who fulfilled strictly defined criteria were included. Forty-nine patients, mostly suffering from dystrophinopathies and facioscapulohumeral muscular dystrophy, appeared to be misdiagnosed. Thirty-four cases were sporadic, 42 patients came from autosomal recessive and 29 from autosomal dominant families. The estimated prevalence of LGMD in the Netherlands was at least 8.1 x 10(-6). The clinical features of the autosomal recessive and sporadic cases were indistinguishable from those of the autosomal dominant patients, although calf hypertrophy was seen more frequently, and the course of the disease was more severe in autosomal recessive and sporadic cases. The pectoralis, iliopsoas and gluteal muscles, hip adductors and hamstrings were the most affected muscles. Distal muscle involvement occurred late in the course of the disease. Facial weakness was a rare phenomenon. The severity of the clinical picture was correlated with a deteriorating lung function. All autosomal dominantly inherited cases showed a mild course, although in two families life-expectancy was reduced because of concomitant cardiac involvement.

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

“…25 Prevalence estimates for LGMD are 1 in 14 500 to 1 in 123 000. 26,27 LGMD2 generally presents during childhood or adolescence as a progressive skeletal myopathy that results in severe disability, with phenotypic overlaps with DMD and BMD. 28 The distribution and pattern of weakness at onset most often affect the pelvic or shoulder girdle musculature or both.…”

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

“…The clinical course is characterised by great variability, ranging from severe forms with onset in the first decade and rapid progression, resembling Xp21 Duchenne dystrophy (DMD), to milder forms with later onset and slower progression resembling Xp21 Becker dystrophy (BMD). 1 These autosomally recessive inherited forms are now classified as limb-girdle muscular dystrophies type 2 (LGMD2) 2 and represent a less common cause of muscular dystrophy.…”

Left ventricular deformation abnormalities in a patient with calpainopathy—a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study

“…Due to their heterogeneity, the occurrence of the LGMDs is difficult to assess. Estimates report a prevalence ranging from 1 in 14,500 to 1 in 123,000 (1)(2)(3). On the basis of immunohistochemical and genetic examinations, the overall frequency of the LGMDs is of 5-70 cases/million population (4)(5)(6)(7)(8)(9).…”