SBMA SIGNS AND SYMPTOMS

This is a summary of clinical features of Kennedy Disease (SBMA). These vary from patient to patient in presentation, severity, and age of onset.

Only your physician can accomplish the proper clinical work up to make an appropriate diagnosis. If you have questions, please discuss them with your physician!

Neurological:

• Bulbar signs
  
• Facial fasciculations
  
• Dysphagia
  
• Intention tremor
  
• Negative Babibski sign
  
• Mixed and lower motor neuronopathy
  
• Primary sensory neuronopathy
  
• Diminshed or absent sensory action potential

Muscle:

• Fasiculations
  
• Cramps
  
• Postural tremor
  
• Muscle weakness and wasting
  
• Spinal muscular atrophy
  
• Bulbar muscular atrophy
  
• Hypertrophied calves

Thorax:

• Gynecomastia

Endocrine:

• Hypothalamic defect
  
• Androgen deficiency
  
• Estogen excess
  
• Diabetes mellitus
  
• Hyperlipoproteinemia

GU:

• Impotence
  
• Sterility
  
• Testicular atrophy

Miscellaneous:

• Late onset (~ third decade)
  
• Slow progression
  
• Assymetry of clinical signs

Laboratory:

• Elevated serum creatine kinase
  
• Pronounced involutional changes in Leydig cells
  
• Hypobetalipoproteinemia
  
• Abnormal androgen receptor gene

Genetic:

• X-linked recessive (Xq12, increased CAG repeat number)