Differential Diagnosis for Ataxia with Cerebellar Signs and Spasticity
Single Most Likely Diagnosis
- Friedreich's Ataxia: This is a common inherited cause of ataxia, characterized by progressive damage to the cerebellum and spinal cord, leading to ataxia, dysarthria, and spasticity. The presence of cerebellar signs and spasticity, along with a family history, makes this a strong consideration.
Other Likely Diagnoses
- Spinocerebellar Ataxia (SCA): A group of autosomal dominant disorders that affect the cerebellum and spinal cord, causing ataxia, dysarthria, and spasticity. There are multiple subtypes, each with slightly different clinical features.
- Multiple Sclerosis (MS): An autoimmune disease that can cause demyelination in the central nervous system, leading to a wide range of symptoms, including ataxia, spasticity, and cerebellar signs.
- Stroke or Cerebrovascular Accident: A vascular event affecting the cerebellum or its connections can cause acute onset of ataxia and spasticity.
Do Not Miss Diagnoses
- Brain Tumor (e.g., Cerebellar Hemangioblastoma or Medulloblastoma): Although less common, a tumor in the cerebellum can cause progressive ataxia, spasticity, and cerebellar signs. Early diagnosis is crucial for treatment and prognosis.
- Subacute Combined Degeneration (Vitamin B12 Deficiency): A condition caused by vitamin B12 deficiency, leading to demyelination in the spinal cord and potentially causing ataxia, spasticity, and cerebellar signs. This is treatable with vitamin B12 supplementation.
- Infectious or Inflammatory Causes (e.g., Cerebellitis or Abscess): Infections or inflammatory processes affecting the cerebellum can cause acute ataxia and spasticity. Prompt diagnosis and treatment are essential to prevent long-term damage.
Rare Diagnoses
- Ataxia-Telangiectasia: A rare genetic disorder characterized by progressive ataxia, telangiectasias, and immunodeficiency.
- Ataxia with Vitamin E Deficiency (AVED): A rare inherited disorder causing progressive ataxia due to vitamin E deficiency.
- Mitochondrial Disorders (e.g., Kearns-Sayre Syndrome): A group of disorders affecting mitochondrial function, which can cause a wide range of neurological symptoms, including ataxia and spasticity.