It is an X-Linked Spinobulbar Muscular Atrophy .
Symptoms begins in males in midadult life
The main clinical manifestations are
Two findings distinguishing this disorder from ALS are
The underlying molecular defect in kennedy disease is an expanded trinucleotide repeat (-CAG-) in the first exon of the androgen receptor gene on X chromosome..There is an inverse correlation between the number of -CAG- repeats and the age of onset of this disease. Genetic abnormality is detected with DNA testing
Symptoms begins in males in midadult life
The main clinical manifestations are
- Lower motor neuron disorder in which there is progressive weakness and wasting of limb and bulbar muscles
- Features of androgen insensitivity manifested by gynecomastia and reduced fertility .
Two findings distinguishing this disorder from ALS are
- The absence of signs of pyramidal tract disease (spasticity)
- The presence of a subtle sensory neuropathy in some patients.
- Gynecomastia is also a differentiating features
The underlying molecular defect in kennedy disease is an expanded trinucleotide repeat (-CAG-) in the first exon of the androgen receptor gene on X chromosome..There is an inverse correlation between the number of -CAG- repeats and the age of onset of this disease. Genetic abnormality is detected with DNA testing
