Tag: ataxia

  • MSA

    MSA: Definition and Description of MSA: Multiple System Atrophy (MSA) is a rare neurodegenerative disorder characterized by a combination of symptoms similar to Parkinson’s disease, autonomic dysfunction, and ataxia. MSA is classified as a type of synucleinopathy, which is a group of disorders associated with the abnormal accumulation of alpha-synuclein protein in the brain. The…

  • Giant Axonal Disease

    Giant Axonal Disease Definition and Description of Giant Axonal Disease Giant Axonal Disease (GAD) is a rare, inherited neurological disorder characterized primarily by the presence of giant axons—enlarged nerve fibers—within the peripheral and central nervous systems. It is caused by mutations in the ABCD1 gene, which is responsible for the production of a protein involved…

  • FRAXA

    FRAXA Definition and Description of FRAXA FRAXA (Fragile X-Associated Tremor/Ataxia Syndrome) is a neurological disorder that affects individuals carrying the fragile X premutation. This condition primarily manifests with movement disorders, tremors, and ataxia (lack of muscle coordination). Patients often experience a range of symptoms that can impact daily functioning, and it is linked to the…