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Concept
Spinal and bulbar muscular atrophy
Summary
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
In men, the disease slowly progresses over decades with bulbar and lower motor neuron loss, muscle denervation, and direct skeletal muscle involvement. The disease causes progressive muscle loss with weakness, fasciculations, and cramps. Weakness of the bulbar muscles follows causing difficulties in speech (dysarthria) and swallowing (dysphagia). Female carriers do not show symptoms. Although there is no cure, supportive intervention can improve mobility and reduce complications. The prevalence of SBMA has been estimated at 2.6:100,000 males.
There is no known cure for SBMA. Supportive care is focused on preventing disease complications and maintaining independence.
Neuromuscular symptoms include muscle weakness and wasting of the limb, bulbar and respiratory muscles, tremor, fasciculations, muscle cramps, speech and swallowing difficulties, decreased or absent deep tendon reflexes, and sensory neuropathy. Other manifestations of SBMA include androgen insensitivity (gynecomastia, erectile dysfunction, reduced fertility, testicular atrophy), and metabolic impacts (glucose resistance, hyperlipidemia, fatty liver disease).
SBMA patients develop limb weakness which often begins in the pelvic or shoulder regions between 30 and 50 years of age. Muscle strength declines slowly, at a rate of approximately 2% per year based on quantitative muscle assessment. Muscle weakness often begins in proximal muscles, with most patients first noticing weakness in their lower limbs.
Tremor, fasciculations, and cramps are common early symptoms of SBMA. Tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements.
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