Giant axonal neuropathy
Giant axonal neuropathy
Definition
A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.
Also identified as
- ICD9 349.89 per MONDO
- MESH D056768 per MONDO
- NCIT C84728 per MONDO
- SCTID 128207002 per MONDO
- UMLS C5200933 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |