Autosomal dominant spastic paraplegia type 37

General Information (adopted from Orphanet):

Synonyms, Signs: SPG37
Number of Symptoms 14
OrphanetNr: 171612
OMIM Id: 611945
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 13 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

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:0000012) Urinary urgency 35 / 7739
2
(HPO:0000020) Urinary incontinence 75 / 7739
3
(HPO:0003487) Babinski sign Occasional [HPO:probinson] 179 / 7739
4
(HPO:0002061) Lower limb spasticity 56 / 7739
5
(HPO:0007350) Hyperreflexia in upper limbs Occasional [HPO:probinson] 5 / 7739
6
(HPO:0006986) Upper limb spasticity Occasional [HPO:probinson] 15 / 7739
7
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
8
(HPO:0002064) Spastic gait 46 / 7739
9
(HPO:0001258) Spastic paraplegia 97 / 7739
10
(HPO:0011448) Ankle clonus Occasional [HPO:probinson] 31 / 7739
11
(HPO:0002166) Impaired vibration sensation in the lower limbs Occasional [HPO:probinson] 26 / 7739
12
(OMIM) Upper limb hyperreflexia (in some patients) 2 / 7739
13
(OMIM) Decreased vibration sense in the lower limbs 1 / 7739
14
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hanein et al. (2007) reported a large 4-generation French family in which at least 13 members had spastic paraplegia inherited in an autosomal dominant pattern. The age at onset varied from 8 to 60 years with a mean ...