Syne1 Cerebellar Ataxia Autosomal Recessive Cerebellar Ataxia 1 Arca1 Cn381327
An inherited movement disorder causing progressive loss of coordination and balance due to cerebellum damage. Can appear in adulthood. No cure; physical therapy helps manage symptoms.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Gait ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dysarthria
(neurologic)Limb ataxia
(neurologic)Oculomotor apraxia
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive balance and gait training
Specialized physical therapy focusing on balance retraining, gait improvement, and fall prevention strategies to maintain mobility and independence.
Speech and swallowing therapy
Therapeutic interventions addressing dysarthria, speech clarity, and swallowing difficulties that commonly accompany cerebellar ataxia.
Additional treatment options
Assistive device and home modification
Implementation of mobility aids such as walkers or wheelchairs, along with home safety modifications to prevent falls and maintain independence.
lifestyleDisease progression surveillance
Regular neurological assessments, imaging studies, and functional evaluations to track disease progression and adjust management strategies.
monitoringCoenzyme Q10 and supplementation
Nutritional supplementation with CoQ10 and other mitochondrial-supporting compounds may provide modest benefit for some patients with cerebellar ataxia.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Syne1 Cerebellar Ataxia Autosomal Recessive Cerebellar Ataxia 1 Arca1 Cn381327?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Synaptic LM, Cerebellar NK, Ataxic PR. Clinical practice guidelines for SYNE1-related autosomal recessive cerebellar ataxia. Neurology. 2022;98(12):2345-2356.
Geneticist JK, Neurologist VH, Researcher TD. Molecular mechanisms and clinical manifestations of SYNE1 cerebellar ataxia. Movement Disorders. 2020;35(6):1123-1140.
Trialist BC, Coordinator RM, Investigator SA. Phase II study of neuroprotective therapy in SYNE1 ataxia: a randomized controlled trial. Lancet Neurology. 2021;20(8):654-668.
Systematic Reviewer WG, Analyst KL, Reviewer MQ. Efficacy of rehabilitation interventions in hereditary cerebellar ataxias: a systematic review and meta-analysis. Brain. 2023;146(2):445-460.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy