Are you suffering from fatigue, muscle discomfort, and a problem with swallowing and speaking? If yes, chances are you might have Kennedy’s disease, a rare disease caused by a defective gene that affects the neuron motors that control facial and limb muscles, making them weak or wasting time. It is also known the Spinal Bulbar Muscle Atrophy because it affects the spinal and bulbar neurons. This disease was first noticed by William R. Kennedy in 1966 and fully reported in 1968.  

This exceedingly rare disease affects only 1 in 50,000 people and is found mostly in males. It very rarely affects females. This disease is a genetically inherited and non-curable disease. The only thing you can do after a diagnosis of Kennedy’s disease is get physical, occupational, and speech therapies to manage the symptoms.  

Causes 

It is caused by a defective gene especially when there is an expansion of a trinucleotide repeat in the androgen receptor gene on chromosome X. These genes are carried by women and transferred to their children in their wombs. The XX genes of women get an androgen receptor mutation that leads to this disease. This directly affects the X gene of the males. Women rarely have one copy of genes and rarely have the symptoms.  

This results in muscle weakness, increased size of male breast tissue (gynecomastia), and reduced fertility.  

Symptoms  

Kennedy disease symptoms start showing up in your late 20s or 30s, and present as: 

  • Muscles weakness especially in your arms, legs, or facial muscles. 
  • Problems in swallowing. 
  • Muscle twitching. 
  • Increased breast size. 
  • Numbness or loss of sensation.  
  • Erectile dysfunction 
  • Low sperm count 
  • Testicles become smaller and less functional.  

Make your life better, give yourself a breath of comfort!!!!  

Call us at 718-DORAL-55 to find the best treatment for your disease.  

Diagnosis 

Kennedy’s disease diagnosis is done by a blood test to check the defective genes. The doctor or nurse takes your blood sample and sends it to the laboratory to diagnose the DNA for the defective genes. The results usually come in 3 to 6 weeks (about 1 and a half months). As this disease affects neuron motors, it’s often compared with ALS (Amyotrophic Lateral Sclerosis). But the key difference between these two is the involvement of the upper motor neurons, which is absent in the case of Kennedy disease.  

Treatment  

Kennedy’s disease treatment is not available even with the current research and technology. You can control some symptoms with medications or therapies but there is no permanent cure. Therapies like physical therapies, occupational therapies, and speech therapies alleviate some of your symptoms.  

Although it does not affect your life expectancy as the disease progresses you might need to use wheelchairs, walkers, or braces for ambulation.  

Kennedy’s disease is a genetically inherited disease from the mother’s side and is not preventable. And there is no cure available right now. So, the best option is for you to notice the symptoms of this disease and consult with the doctor for prompt treatment.  

 

Want to know the medications or therapies for Kennedy’s disease? 

Call us at 718-DORAL-55 to book an appointment with your Doral Health & Wellness doctor.