SNP Shot: Genomic Insights

Adult polyglucosan body disease (APBD) is a neurological disorder that impacts the nervous system. Symptoms usually begin between the ages of 35 and 60. Common initial signs include peripheral neuropathy, characterized by numbness and tingling in the legs, and spasticity, leading to progressive muscle weakness and stiffness. These issues can cause an unstable walk, impaired balance, and a higher likelihood of falls.

Neurogenic bladder, a dysfunction of the nerves controlling bladder function, frequently appears early in APBD. Individuals affected find it increasingly difficult to initiate or stop urination.

Over time, most individuals with APBD experience a loss of control over their bladder and bowel, as well as their limbs. Autonomic nervous system damage, affecting involuntary bodily functions, results in problems regulating blood pressure, heart rate, breathing, digestion, temperature, and sexual function, leading to recurring episodes of extreme fatigue. Approximately half of those with APBD develop dementia, characterized by a decline in cognitive abilities.

Inheritance:

APBD follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must possess mutations for the condition to manifest. Individuals with autosomal recessive disorders inherit one copy of the mutated gene from each parent, who are typically carriers but do not exhibit symptoms of the disease themselves.