Presentation
Aminopyridines are also effective in a subset of patients presenting with downbeat nystagmus. [biblioteca.versila.com]
Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only. [ncbi.nlm.nih.gov]
Psychiatrical
- Psychiatric Symptoms
Per symptom progression & development of psychiatric symptoms Family/ Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new [ncbi.nlm.nih.gov]
Treatment
Understanding these pathophysiologic changes may reveal novel therapeutic targets for symptomatic treatment of ataxia. [biblioteca.versila.com]
Scoliosis / Skeletal involvement Surgical treatment Refer to orthopedic surgeon when required. [ncbi.nlm.nih.gov]
Prognosis
Evaluation Strategies to Identify the Genetic Cause of Hereditary Ataxia in a Proband Establishing a specific genetic cause of primary hereditary ataxia (as defined in this chapter): Can aid in discussions of prognosis (which are beyond the scope of this [ncbi.nlm.nih.gov]
Etiology
[…] ataxias. 2, 3 Weight control to avoid obesity Home adaptations to prevent falls (e.g., grab bars, raised toilet seats) Pharmacologic treatment Consider riluzole (100 mg/d 3), the only drug shown to improve ataxia symptoms in persons w/ataxia of mixed etiologies [ncbi.nlm.nih.gov]
Pathophysiology
Understanding these pathophysiologic changes may reveal novel therapeutic targets for symptomatic treatment of ataxia. [biblioteca.versila.com]
Prevention
gait training, muscle strengthening) to maintain mobility & function 1 OT to optimize ADL Inpatient rehab w/OT/PT may improve ataxia & functional abilities in persons w/degenerative ataxias. 2, 3 Weight control to avoid obesity Home adaptations to prevent [ncbi.nlm.nih.gov]