disease 915 words KG: ent-dise-6e7a49bb
Contents

Huntington Disease-Like 2 (HDL2)

Disease Info
InheritanceAutosomal dominant
Gene*JPH3* (Junctophilin-3)
Chromosomal location16q24.3
ChoreaJerky, involuntary movements (present in ~90%)
DystoniaSustained muscle contractions (60-70%)
ParkinsonismBradykinesia, rigidity (30-40%)
AtaxiaCoordination difficulties (20-30%)
DatabasesOMIMOrphanetClinicalTrialsPubMed

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