What are the Symptoms of Kennedy Disease

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Kennedy’s disease, also known as X-linked spinal bulbar muscular atrophy (SBMA), is a rare inherited neuromuscular disorder. It leads to progressive muscle weakening and wasting, primarily affecting the arms and legs. Common symptoms include severe cramps, as well as difficulties with speech and swallowing. The disease typically progresses slowly, with a normal life expectancy.

Symptoms of Kennedy’s Disease:

  • Neurological Symptoms:
  • Bulbar Signs: Problems with functions controlled by the motor nerves from the brain stem, such as breathing, swallowing, and speaking.
  • Dysphagia: Difficulty swallowing.
  • Intention Tremor: Hand tremors during purposeful actions.
  • Normal Babinski: Proper response of the foot to stimulus, indicating no brain abnormalities.
  • Lower Motor Neuropathy: Weakness and wasting of muscles due to nerve loss.
  • Primary Sensory Neuropathy: Numbness in specific areas.
  • Decreased or Absent Deep Tendon Reflexes: Lack of response when the knee is tapped.
  • Muscular Symptoms:
  • Fasciculations: Twitching of small muscles.
  • Cramps: Muscle spasms.
  • Postural Tremor: Shaky muscles in certain positions.
  • Muscular Atrophy: Wasting of muscles due to nerve dysfunction.
  • Hypertrophied Calves: Thickening of calf muscles due to cramps.
  • Thoracic Symptoms:
  • Gynecomastia: Enlarged breasts.
  • Endocrine Symptoms:
  • Androgen Deficiency: Decrease in masculine characteristics.
  • Estrogen Excess: Increased apparent estrogen effect due to reduced masculine characteristics.
  • Genito-Urinary Symptoms:
  • Impotence: Erectile dysfunction.
  • Reduced Fertility: Low sperm count.
  • Testicular Atrophy: Shrinkage and decreased functionality of testicles.

Due to its rarity, Kennedy’s disease can be misdiagnosed, sometimes confused with amyotrophic lateral sclerosis (ALS), a more common motor neuron disease characterized by the breakdown of neurons in the spinal cord and brain.