Spinocerebellar ataxia (SCA) is a progressive, degenerative,[1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right.
In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
[3] Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements.
[4] As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum,[5] loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms.
However, since not every SCA has been genetically identified some SCAs are still diagnosed by neurological examination, which may include a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.
There is no cure for spinocerebellar ataxia, which is currently considered to be a progressive and irreversible disease, although not all types cause equally severe disability.
[32] Her research began in the mid-1990s and progressed to work with mouse models about a decade later and most recently has moved to a study with non-human primates.
[33] Finally, another gene transfer technology discovered in 2011 has also been shown by Boudreau et al. to hold great promise and offers yet another avenue to a potential future cure.
[34] N-Acetyl-Leucine is an orally administered, modified amino acid that is being developed as a novel treatment for multiple rare and common neurological disorders by IntraBio Inc (Oxford, United Kingdom).
[citation needed] A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of a related inherited cerebellar ataxia, ataxia-telangiectasia, began in 2019.
One recent research report demonstrated a gain of two SARA points (Scale for the Assessment and Rating of Ataxia) from physical therapy.
Research showed that spinocerebellar ataxia 2 (SCA2) patients[49] with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program.
A randomised clinical trial revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living.