Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
| Disorder | Clinical features | Associated features | Investigations | Disease modifying treatment available | Time critical |
|---|---|---|---|---|---|
| Spinocerebellar ataxia type 17 | |||||
| Dentatorubral-pallidoluysian atrophy |
Cerebellar ataxia Seizure Myoclonus Dementia Chorea |
||||
| Chorea acanthocytosis | |||||
| Huntington disease-like 2 |
| Gene | ||
|---|---|---|
| JPH3 | Search ClinVar | Search ClinGen |
| PRNP | Search ClinVar | Search ClinGen |
| TBP | Search ClinVar | Search ClinGen |
| ATN1 | Search ClinVar | Search ClinGen |
| VPS13A | Search ClinVar | Search ClinGen |
None
Huntington’s disease phenocopies may cause the following: