Adelaide Hills woman one of 100 people worldwide

More than 30 years ago the Gallasch family was told their daughter, Amy, would never walk or talk, but doctors could not tell them why.

Now, the Adelaide family finally has a diagnosis for her illness.

The head of the Royal Adelaide Hospital's neurology unit, Professor Philip Thompson, said Ms Gallasch has a neurodegenerative disease called BPAN — and there are just 100 known cases worldwide.

"BPAN stands for beta propeller associated neurodegeneration, a rather clunky term," Professor Thompson said.

Read more...http://www.abc.net.au/news/2016-06-18/adelaide-family-learns-to-cope-with-rare-disorder-bpan/7512474?WT.ac=statenews_sa

Beta-propeller Protein-Associated Neurodegeneration (BPAN) is caused by mutations in the gene WDR45, located on the X chromosome.

To date, all affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease.

The majority are females, indicating the mutations are new, or de novo, and suggesting that mutations are lethal in most males before birth.

Read more...http://www.nbiadisorders.org/about-nbia/bpan