PARALYSIS AGITANS, JUVENILE, OF HUNT

General Information (adopted from Orphanet):

Synonyms, Signs: PARKINSON DISEASE, JUVENILE, OF HUNT
Number of Symptoms 10
OrphanetNr:
OMIM Id: 168100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000298) Mask-like facies 44 / 7739
2
(HPO:0001260) Dysarthria 329 / 7739
3
(HPO:0001337) Tremor 200 / 7739
4
(HPO:0001300) Parkinsonism 75 / 7739
5
(HPO:0001288) Gait disturbance 318 / 7739
6
(HPO:0002063) Rigidity 92 / 7739
7
(HPO:0002067) Bradykinesia 62 / 7739
8
(OMIM) Degeneration and loss of large cells of lenticular nuclei 1 / 7739
9
(OMIM) Flexion dystonia of fingers 1 / 7739
10
(OMIM) Normal substantia nigra 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ramsey Hunt (1917) described a disorder with typical parkinsonism beginning in the teens or earlier, with tremor, masklike facies, bradykinesia, dysarthria and rigidity. Progression was very slow. David B. Clark had seen the disorder in father and daughter ...