This rare genetic disorder may affect fewer than 100 people worldwide. You may experience difficulty walking or numbness in your arms and legs at first, but it can develop into more serious symptoms.

Giant axonal neuropathy (GAN) is a rare, autosomal recessive neurodegenerative disorder, characterized by a spectrum of symptoms and a challenging prognosis. Now, a study published recently in the New ...

A new Guillain-Barré syndrome mimic that appeared to be triggered by mild infection emerged in children with biallelic RCC1 variants, a case series showed. One of the first cases was seen in a ...

An investigational gene therapy for a rare neurodegenerative disease that begins in early childhood, known as giant axonal neuropathy (GAN), was well tolerated and showed signs of therapeutic benefit ...

Nerve damage, also known as neuropathy, can have many causes. In some cases, neuropathy is an inherited condition. Hereditary neuropathies include a group of inherited conditions that affect the ...

"Alterations in axonal membrane and channel function occur early in the disease course, prior to discernable large fibre involvement, and has the potential to be used as an early biomarker of ...