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New Documentary Highlights Rare Cause of Peripheral Neuropathy

A fascinating documentary called Life Through a Lens is touring the film festival circuit. The 11-minute short follows famed Hollywood photographer Robert Zuckerman and his struggles to live and work with a disease called adult polyglucosan body disease, or APBD. Adult polyglucosan body disease is considered an "orphan disease" so rare that it affects fewer than 200,000 people around the world. It is one of 7,000 such diseases.

What makes APBD so rare is that it is a genetic disease that only affects Ashkenazi Jews between the ages of 30 and 60. The disease's rarity in the populace makes research for a cure almost non-existent, and, according to Zuckerman, the illness is frequently misdiagnosed as other diseases, such as multiple sclerosis.

Interestingly, one of the primary symptoms of APBD is peripheral neuropathy, along with bladder problems and decreased energy, which Zuckerman points out can also be arranged into APBD's acronym.

So, what is APBD, exactly? It is described as a deficiency in the glycogen-branching enzyme that causes excess polyglucosan bodies (sugar-based molecules) in the nerves and muscles, creating a deficiency in both the peripheral and central nervous systems. It is caused by mutations in the glycogen-branching enzyme gene (GBE1) and is said to be inherited in an autosomal recessive pattern.

The good news is, if you don't have Ashkenazi heritage, you are not at risk for APBD, but if you do have any such heritage, there is a chance you could be affected. Thankfully, there is a simple saliva test to screen for the disease, and its symptoms - especially the peripheral neuropathy symptoms - can be treated as they come.

If you believe you could have APBD, please contact the APBD Research Foundation for testing information at This email address is being protected from spambots. You need JavaScript enabled to view it.. To schedule an appointment with Dr. Weller at Restore Wellness Center, please call 480-751-1629.

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Tuesday, 23 April 2019

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