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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2B

Autosomal recessive limb-girdle muscular dystrophy type 2B

Synonyms
Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Dysferlinopathy
Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). MMD (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes in this spectrum are scapuloperoneal syndrome and congenital muscular dystrophy. Asymptomatic hyperCKemia is characterized by marked elevation of serum CK concentration only. DMAT is characterized by early and predominant distal muscle weakness, particularly of the muscles of the anterior compartment of the legs.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Masashi Aoki
Toshiaki Takahashi
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Available tests

63 tests are in the database for this condition.

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Clinical tests (63 available)

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Molecular Genetics Tests

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  • Also known as: FER1L1, LGMD2B, LGMDR2, MMD1, DYSF
    Summary: dysferlin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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