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GlossaryKennedy's Disease (SBMA)

x-linked genetic disorder causing muscle weakness and atrophy

Kennedy's Disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare, X-linked genetic disorder that primarily affects males. It is characterized by the progressive degeneration of motor neurons in the spinal cord and brainstem, leading to muscle weakness, atrophy, and sometimes endocrine disturbances such as gynecomastia and reduced fertility.

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research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat

36 citations, July 2014 in “Neuromuscular Disorders”

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management

42 citations, May 2013 in “Oral Diseases”

Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.

research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients

48 citations, June 2014 in “Neurobiology of Disease”

The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.

research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?

17 citations, July 2017 in “Molecular and Cellular Endocrinology”

Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.

research Perspectives of Kennedy's Disease

65 citations, September 2010 in “Journal of the Neurological Sciences”

Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.

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