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Genetically transmitted neuromuscular disorder
characterized by progressive proximal muscle weakness.
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There are two types and numerous
variants of LGMD.
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- Limb-Girdle Muscular Dystrophy Type IA (Proximal Muscular Dystrophy): Autosomal dominant disorder characterized by adult onset of proximal
muscle weakness, beginning in the hip girdle region and later progressing to
the shoulder girdle region. Distal muscle weakness may occur later. Some
affected individuals exhibit a distinctive nasal, dysarthric pattern of
speech.
- Limb-Girdle Muscular Dystrophy Type IB: Characterized by cardiac involvement and symmetrical weakness in the
proximal lower-limb muscles before age 20 years. In the third or fourth
decade, upper-limb muscles gradually become affected. Early contractures of
the spine and contractures of elbows and Achilles tendons are minimal or
late, distinguishing this disorder from Emery-Dreifuss muscular dystrophy.
- Limb-Girdle Muscular Dystrophy Type IC: Characterized with onset of disease around age 5 years. Calf hypertrophy,
mild-to-moderate proximal muscle weakness, multiple episodes of muscle
cramps after physical effort, and serum creatinine kinase levels more than
4to 25-fold normal values are present.
- Limb-Girdle Muscular Dystrophy Type ID: Characterized with a slowly progressive LGMD. Onset is believed to occur
between the second and sixth decade, with hip girdle involvement preceding
shoulder girdle involvement. It is inherited as an autosomal dominant
pattern.
- Limb-Girdle Muscular Dystrophy Type IE: Characterized by severe dilated cardiomyopathy
with conduction defect. The age of onset is during the adulthood period and most often
presents as progressive and severe muscle weakness of the lower
extremities. Other clinical features include progressive dyspnea over years, becoming
very severe even at rest, syncopal episodes due to complete heart block, and sudden death.
An echocardiography always demonstrates dilatation of all four chambers of the heart.
- Limb-Girdle Muscular Dystrophy Type IF: Characterized by pelvic and shoulder girdle proximal weakness. Pelvic
girdle impairment is more severe and occurs earlier than shoulder girdle
weakness. Distal weakness often occurs later. Respiratory muscles are
clinically affected, especially in the juvenile onset group.
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- Limb-Girdle Muscular Dystrophy Type IIA (Pelvofemoral Muscular Dystrophy;
Leyden-Moebius Muscular Dystrophy; Calpainopathy): Occurs usually in childhood but
sometimes in young adult or middle age period. Muscular involvement is first evident in either the pelvic or,
less frequently, the shoulder girdle. It manifests often with asymmetry of
muscle wasting when the upper limbs
are first involved.
- Limb-Girdle Muscular Dystrophy Type IIB: Characterized by slowly progressive muscular weakness of the lower limbs
(distal and proximal) beginning in the late part of the second decade of life. Patients
had markedly elevated serum creatine kinase levels, and two of the four
patients from whom muscle biopsies were available demonstrated an
inflammatory process, a finding not previously described in LGMD.
- Limb-Girdle Muscular Dystrophy Type IIC (Duchenne-like Muscular Dystrophy; Secondary Adhalin Deficiency; North African Severe Childhood Autosomal Recessive Muscular Dystrophy type; Sarcoglycan Deficiency): Autosomal recessive inheritance of muscular dystrophy resembling the
X-linked Duchenne type with onset before 5 years, ...