Spinal and bulbar muscular atrophy (SBMA), also known as spinobulbar muscular atrophy, bulbo-spinal atrophy, X-linked bulbospinal neuropathy (XBSN), X-linked spinal muscular atrophy type 1 (SMAX1), and Kennedy's disease (KD) — is a debilitating neurodegenerative disease resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord.
The condition is associated with mutation of the androgen receptor (AR) gene and is inherited in a X-linked recessive manner. As with many genetic disorders, no cure is known, although research continues.
Because of its endocrine manifestations related to the impairment of the AR gene, SMBA can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease and the spinocerebellar ataxias.
Read more about Spinal And Bulbar Muscular Atrophy: Genetics, Pathophysiology, Signs and Symptoms, History, See Also
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