Limb–girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited in a dominant fashion, while for others this occurs recessively. The classification of …

Limb-girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies that cause muscle weakness in your shoulders, upper arms, hips and upper legs. There are several different subtypes based on which gene has a mutation. Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.

In 1954 J.N. Walton (Fig. 1) and F.J. Nattrass introduced the expression limb girdle muscular dystrophy (LGMD) to identify patients of both genders who presented onset of muscle weakness within the third decade of life, with weakness and atrophy of proximal muscles in the limb girdles, with sparing of facial muscles, and with moderately rapid ...

LGMD is a genetic and heritable disorder, due to one of many genetic mutations of proteins involved in muscle function. All currently identified LGMDs have an inheritance pattern that is dominant or recessive, although the definition of LGMD allows for diseases with more complicated inheritance patterns to be classified as LGMD.

Herein, we review the LGMD pathway, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments.

Limb-girdle muscular dystrophy (LGMD) is characterized by a predominantly proximal distribution of weakness. It includes a number of heterogeneous genetic disorders that vary in severity, phenotype, pathology, and age of onset, which ranges from childhood through adulthood [1,2].

2019年10月1日 · Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body.

2025年3月1日 · Limb-Girdle Muscular Dystrophy (LGMD) is a diverse and heterogeneous group of disorders that exhibit autosomal dominant or recessive inheritance patterns. With a prevalence of approximately 2 in every 100,000 individuals, LGMD and its subgroups constitute the fourth most common genetic cause of muscle weakness [1], [2], [3].

2012年12月1日 · An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

There are 33 forms of limb-girdle muscular dystrophy (LGMD), and they are classified by the genetic flaws that appear to cause them. MDA-supported research was behind much of the work that identified these LGMD genes. Genes, located on chromosomes in each cell in the body, are the codes, or recipes, for production of the body’s various proteins.