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Adult Polyglucosan Body Disease (APBD)

Disease Info

Prevalence	Very rare; estimated <1 per 1,000,000 worldwide
Inheritance	Autosomal recessive - requires two mutant alleles
Age of onset	Typically 40-60 years (range: 20-70 years)
Ethnic distribution	More common in Ashkenazi Jewish population (carrier frequency ~1:10)
Sex distribution	Equal males and females
Common mutations	Y329S, P378L (common in Ashkenazi Jewish patients)
Enzyme activity	Typically 10-30% of normal in affected individuals
Peripheral neuropathy	Distal symmetric polyneuropathy, sensory loss, reduced reflexes
Muscle weakness	Progressive proximal weakness, difficulty walking
Cognitive impairment	Memory problems, executive dysfunction, dementia
Urinary incontinence	Neurogenic bladder, urgency, frequency
Fatigue	Exercise intolerance, easy fatigability
Databases	OMIM Orphanet ClinicalTrials PubMed

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