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Related Experiment Video

Updated: Mar 31, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Spinal and Bulbar Muscular Atrophy.

Christopher Grunseich1, Kenneth H Fischbeck1

  • 1Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.

Neurologic Clinics
|October 31, 2015
PubMed
Summary
This summary is machine-generated.

Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked neuromuscular disorder caused by a gene mutation. Diagnosis is often delayed, and current treatments targeting the mutant androgen receptor have been unsuccessful.

Keywords:
Androgen receptorKennedy diseaseMotor neuron diseaseSpinal and bulbar muscular atrophy

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare X-linked neuromuscular disorder.
  • It stems from a trinucleotide (CAG) repeat expansion within the androgen receptor (AR) gene.

Observation:

  • Affected males typically present with progressive muscle weakness around their mid-40s.
  • Clinical manifestations include symptoms of androgen insensitivity, such as gynecomastia and reduced fertility.

Findings:

  • Diagnosis is frequently delayed due to low disease awareness among clinicians.
  • Direct diagnosis is achievable through genetic testing, identifying the specific CAG repeat expansion.

Implications:

  • Current therapeutic strategies aimed at blocking the toxicity of the mutant androgen receptor have not proven successful.
  • Ongoing research is focused on evaluating additional candidate therapies for Kennedy disease.