Kennedy’s Disease (KD) is a rare neuromuscular disease and a form of adult-onset Spinal Muscular Atrophy (SMA) that is a result of mutations in the Androgen Receptor gene on the X chromosome. There are small increases in one specific region of the gene. The larger the increases, the earlier the onset and the more pronounced the symptoms.
KD is also known as Spinal Bulbar Muscular Atrophy (SBMA). It is an inherited chromosomal X-linked recessive disease that affects the spinal and bulbar neurons causing muscle wasting (atrophy) predominantly in the legs, arms, face and throat. It is estimated that one in 40,000 people worldwide has KD.
Many people are not diagnosed for years. Due to similarities in symptoms, many people are misdiagnosed with ALS. KD can be diagnosed easily with a simple DNA blood test. Very often KD diagnosis is done between the ages of 20-50 years.
To date, KD is incurable and there are no treatments. Some people living with the disease do take prescribed medications to alleviate symptoms. Patients have reported that stretching exercises can help ease cramps and pain.
Primary Lateral Sclerosis (PLS) is a rare progressive neurodegenerative disease which is similar to ALS. However, ALS and PLS are not the same thing. Unlike ALS, PLS only affects the upper motor neurons. ALS affects both the upper and lower motor neurons.