limb-girdle muscular dystrophy

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Noun1.limb-girdle muscular dystrophy - an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
References in periodicals archive ?
Myonexus Therapeutics is a clinical stage, rare disease gene therapy company developing first ever treatments for limb girdle muscular dystrophies (LGMDs) based on research at Nationwide Children's Hospital, a leader in neuromuscular gene therapy discovery and translational research.
MRI examinations were performed on a 3.0T (GE Signa, USA or Philips Achieva, NED) scanner at the level of the thigh in all patients, as previously described.[23] Lower leg muscle MRI was performed in six patients, including one with EDMD, four with LGMD, and one with L-CMD.
The partnership with Paragon provides additional scalable capacity for Sarepta's micro-dystrophin program and future programs, which currently include Duchenne, LGMD, Pompe, and CNS.
Finally, a manual filtering step was carried out to prioritize relevant genes in the 30 major LGMD genes for LGMD1B, LGMD2CF, and LGMD2B.
The first male patient (age: 15 years) presented with prominent maxilla, high arched palate and jaw muscle weakness along with lower limbs involvement as a primary weakness subsequently symmetrical and severe involvement of the upper limb girdle and impaired hearing were indicative of FSHMD or LGMD. The second male patient (age: 05 years) presented with dysmorphic face along with limb and upper limb girdle involvement was indicative of MDC 1A or LGMD.
Here, we report the case of a 73-year-old patient with LGMD type 2B (LGMD2B) who developed an atypical lipomatous tumor (ALT), an intermediate or locally aggressive form of adipocytic tumor that is also referred to as well-differentiated liposarcoma (WDLS) [15].
Sam said: "We are hoping not just to raise funds, but also to raise awareness of LGMD. "We are the only registered UK charity which specifically supports this rare and currently incurable group of diseases.
Forty-five people (23 males and 22 females) with MG, FSHD, Becker muscular dystrophy (BMD), limb-girdle muscular dystrophy (LGMD), and other related diseases constituted the sample.
41-56) were mainly from patients with a generic diagnosis of LGMD. In 4 of these samples (nos.
Based on them they were grouped under LGMD before the use of dystrophin IHC that showed a mosaic pattern, after which they were diagnosed as females with dystrophinopathies.12
Whereas individuals with Becker muscular dystrophy, limb girdle muscular dystrophy (LGMD), oculopharyngeal muscular dystrophy (OPMD), and fascioscapulohumeral muscular dystrophy (FSHD) are included in the analysis of some articles, most included studies focus on the experiences of those living with Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM).