Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.
Giant axonal neuropathy usually appears in infancy or early childhood,
and is progressive. Early signs of the disorder often present in the
peripheral nervous system,
causing individuals with this disorder to have problems walking. Later,
normal sensation, coordination, strength, and reflexes become affected.
Hearing or vision problems may also occur. Abnormally kinky hair is
characteristic of giant axonal neuropathy, appearing in almost all
cases. As the disorder progresses, central nervous system becomes involved, which may cause a gradual decline in mental function, loss of control of body movement, and seizures.
A little girl who lives near me, Hannah, was diagnosed with GAN in 2008. Since then her family has hosted many fundraisers and poured their heart and soul into learning about the disease and helping others.
Here is their most recent video:
GAN is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.