Management Guidelines
No clinical practice guidelines for spinocerebellar ataxia type 4 (SCA4) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SCA4, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 3.
Spinocerebellar Ataxia Type 4: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Neurologic
| Neurologic assessment for cerebellar motor dysfunction (gait postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus) | Use clinical neurologic eval standardized scale to establish baseline for ataxia, such as SARA.1
Assessment for non-cerebellar signs (vibration sense, other sensory modalities, Romberg test/ sensory ataxia, weakness, amyotrophy, reflexes, dysphagia, movement disorders, involuntary facial movements) | • Use clinical neurologic eval
Consider nerve conduction studies to establish presence severity of sensory neuropathy.
Assessment for symptoms of autonomic dysfunction:
Dizziness, lightheadedness, fainting, falls when standing up
Urinary dysfunction
Sexual dysfunction
Constipation, diarrhea, fecal incontinence
Flushing, abnormal sweating
| • Use standardized measurement of orthostatic blood pressure.2
Source: GeneReviews — "Spinocerebellar Ataxia Type 4"
