Autosomal dominant spastic paraplegia type 19

General Information (adopted from Orphanet):

Synonyms, Signs: SPG19
Number of Symptoms 15
OrphanetNr: 100999
OMIM Id: 607152
ICD-10: G11.4
UMLs: C1846685
MeSH: C536856
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant pure spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002839) Urinary bladder sphincter dysfunction 34 / 7739
2
(HPO:0000012) Urinary urgency 35 / 7739
3
(HPO:0000020) Urinary incontinence 75 / 7739
4
(HPO:0002061) Lower limb spasticity 56 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0011448) Ankle clonus 31 / 7739
7
(HPO:0003487) Babinski sign 179 / 7739
8
(HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
9
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
10
(HPO:0001258) Spastic paraplegia 97 / 7739
11
(HPO:0011449) Knee clonus 10 / 7739
12
(HPO:0002064) Spastic gait 46 / 7739
13
(HPO:0007340) Lower limb muscle weakness 61 / 7739
14
(OMIM) Ankle or knee clonus 3 / 7739
15
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Valente et al. (2002) reported an Italian family in which 10 members in 3 consecutive generations had spastic paraplegia. Mean age of onset was 47 years (range, 36-55) and clinical findings included lower limb hyperreflexia, progressive spastic gait ...