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Kennedy disease

Synonyms
Bulbo-spinal atrophy X-linked; Bulbospinal neuronopathy X-linked recessive; Kennedy spinal and bulbar muscular atrophy; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; Spinal and Bulbar Muscular Atrophy; Spinal and bulbar muscular atrophy X-linked
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Albert La Spada
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Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM, AR
    Summary: androgen receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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