By: Jazmin Ramirez, Ramsha Javed, and Kaylee
What is KD?
KD is a rare X-linked recessive genetic progressive neuro-muscular disease. It is a disorder that disrupts the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord.
- Dysphagia (trouble swallowing)
- Intention Tremor (hand tremors when trying to do something)
- Normal Babinski (when the bottom of the foot is scraped, the toes bend down)
- Primary Sensory Neuropathy (loss of sensation)
- Cramps (large muscle spasms)
- Fasciculations (twitching of small muscles without purposeful movement, that can be seen through the skin)
- Decreased or Absent Tendon Reflexes (when a doctor taps the knee with his hammer there is no response)
- Lower Motor Neuropathy (the lower motor nerves are those that run from the spinal cord to the muscles that they stimulate to move. Loss of that nerve leads to weakness and wasting of the muscle)
Currently there is no treatment or cure for KD. Instead individuals living with KD take medications prescribed by their doctor to help alleviate various symptoms. Also reports have shown that a light exercise program coupled with stretching helps.
The lifespan of individuals with KD is usually normal. The disease is slow but progressive. Individuals tend to remain ambulatory until later on in the disease.