D2I2.
genetic

Kennedy's disease

Spinal and bulbar muscular (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen (AR) gene, which results in both loss of AR function and toxic gain of function.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Weakness of limb and bulbar muscles, tremor, fasciculations, muscle cramps, dysarthria and dysphagia

Causes — why it happens

  • · in the AR gene

How it's found

  • ·Number of CAG repeats in the AR gene

Treatment

  • ·Supportive Care
Plain-language summary adapted from Wikipedia. Not medical advice.