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Juvenile onset (before age 20 years)
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Neurologic
| Neurologist assessment for myoclonus incl at rest, w/action, & in response to stimuli | Use standardized UMRS. |
| Seizure: type & frequency | Obtain baseline EEG before initiation of ASM (when EEG is most characteristic). |
| Neurologist assessment for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit) | Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS). 1 |
| Neurologist assessment for chorea | Chorea is rare in juvenile-onset DPRLA. |
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Intellectual disability
| Neuropsychologist assessment | Cognitive eval to establish baseline |
Development /
School performance
| Developmental assessment |
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Psychiatric
| Psychiatrist assessment for ADHD, ASD, etc. | Evaluate as needed for therapy. |
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Musculoskeletal/ADL
| By physical medicine & rehab / OT & PT | To assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, & need for ongoing PT/OT |
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Sleep disturbances
| Sleep study | To assess for obstructive sleep apnea |
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Adult onset (after age 20 years)
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Neurologic
| Neurologist assessment for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit) | Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS). 1 |
| Neurologist assessment for extrapyramidal features (e.g., parkinsonism, choreoathetosis, dystonia, etc.), pyramidal manifestations (e.g., spasticity, Babinski sign, etc.) | Use standardized scales to establish baseline (e.g. MDS-UPDRS for parkinsonism). 2 |
| Seizures | Rare after age 40 years EEG
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Cognitive/
Psychiatric
| Assess for cognitive dysfunction assoc w/cerebellar cognitive affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation), behavioral impairment (e.g., loss of inhibitory control, hallucinations, etc.), depressed mood | Refer to psychiatrist, psychologist, &/or neuropsychologist as needed. Use neuropsychological tests to establish baseline for cognitive decline. Consider that behavioral impairment & affective disturbances are often reported by caregiver.
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Sleep disturbances
| Sleep study | Assessment for insomnia, REM sleep behavior disorders, etc. |
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Speech
| For those w/dysarthria: eval by SLP | Consider need for alternative means of communication. |
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Vision
| Eye exam | To assess for corneal endothelial degeneration & optic atrophy |
| Assess need for low vision services. | |
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Feeding
| For persons w/frequent choking or severe dysphagia, assess nutritional status & aspiration risk. | Consider involving gastroenterology / nutrition / feeding team, incl formal swallowing eval. |
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All ages of onset
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Genetic counseling
| By genetics professionals 3 | To inform affected persons & their families re nature, MOI, & implications of DRPLA to facilitate medical & personal decision making |
Family support
& resources
| Assess need for:
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