limb-girdle muscular dystrophy

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limb-·gir·dle mus·cu·lar dys·tro·phy

[MIM*253600]
a group of muscular dystrophies, probably heterogeneous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterized by weakness and wasting, usually symmetric, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Autosomal dominant and recessive inheritance have been described.

limb-girdle muscular dystrophy

n.
Any of several forms of muscular dystrophy that chiefly affect the skeletal muscles of the shoulder and pelvic girdles, with symptoms beginning at any age.

limb-gir·dle mus·cu·lar dys·tro·phy

(lim'gĭr'dĕl mŭs'kyū-lăr dis'trŏ-fē)
One of the less well-defined types of this disorder, it is characterized by weakness and wasting, usually symmetric, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance.

Limb-girdle muscular dystrophy (LGMD)

An autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age and is characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; the disease usually progresses slowly with cardio-pulmonary complications in the later stages

Leyden,

Ernst V. von, German physician, 1832-1910.
Charcot-Leyden crystals - see under Charcot
Leyden ataxia - Synonym(s): Westphal-Leyden syndrome
Leyden crystals - Synonym(s): Charcot-Leyden crystals
Leyden disease
Leyden-Möbius muscular dystrophy - Synonym(s): limb-girdle muscular dystrophy
Leyden neuritis - fatty degeneration of the fibers of the affected nerve.
Westphal-Leyden syndrome - see under Westphal

Möbius,

Paul J., German physician, 1853-1907.
Leyden-Möbius muscular dystrophy - Synonym(s): limb-girdle muscular dystrophy
Möbius sign - impairment of ocular convergence in Graves disease.
Möbius I syndrome - moderate migraine accompanied by extraocular palsy. Synonym(s): occasional oculomotor paralysis; ophthalmoplegic migraine
Möbius II syndrome - a developmental bilateral facial paralysis usualy associated with oculomotor or other neurological disorders.Synonym(s): congenital facial diplegia; developmental bilateral facial paralysis
References in periodicals archive ?
"We have had success in the clinic using AAV gene therapy with limb girdle muscular dystrophy type 2D, which is caused by mutations in the alpha-sarcoglycan gene," Louise Rodino-Klapac, PhD, principal investigator in the Center for Gene Therapy at The Research Institute of Nationwide Children's Hospital, said.
Key words: Limb girdle muscular dystrophy, dilated cardiomyopathy, LMNA gene, mutation, cardiac rehabilitation, atrioventricular block.
Limb girdle muscular dystrophy (LGMD) is a genetically heterogeneous disease that may be autosomal recessive (2A-J) or autosomal dominant (1A-1F) (1-2).
2D-ECHO, Bi-dimensional echocardiogram; BMI, body mass index; CK, creatinine kinase; CRP, c-reactive protein; CV, conduction velocity; DCM-CD, dilated eardiomyopathy with conduction defect disease; EDMD, Emery Dreifuss Muscular Dystrophy; ECG, electroeardiogram; EMG, needle electromyogram; LMNA, laminA/C; LGMD, limb girdle muscular dystrophy; LVEF, left ventricular ejection fraction; METs, metabolic equivalents; MU, motor unit; MUGA, multigated acquisition; NE, nuclear envelope; PVC's, premature ventricular contractions
Limb girdle muscular dystrophy refers to a group of rare genetic myopathies, of which there are more than 20 different subtypes, none with approved therapies.
Limb girdle muscular dystrophy causes muscles to weaken and waste over time leading to increasing disability, particularly affecting the shoulders and pelvis.
- The European Medicines Agency has granted orphan drug designation to US-based biotherapeutics company aTyr Pharma, Inc.'s (NASDAQ: LIFE) Resolaris for the treatment of limb girdle muscular dystrophy patients, the company said.
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.