Autosomal dominant spastic paraplegia type 36

General Information (adopted from Orphanet):

Synonyms, Signs: SPG36
Number of Symptoms 15
OrphanetNr: 320365
OMIM Id: 613096
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant complex 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:0001258) Spastic paraplegia 97 / 7739
4
(HPO:0011402) Demyelinating sensory neuropathy 2 / 7739
5
(HPO:0002061) Lower limb spasticity 56 / 7739
6
(HPO:0002064) Spastic gait 46 / 7739
7
(HPO:0007220) Demyelinating motor neuropathy 3 / 7739
8
(HPO:0003487) Babinski sign 179 / 7739
9
(HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
10
(HPO:0001347) Hyperreflexia 363 / 7739
11
(HPO:0001761) Pes cavus 225 / 7739
12
(HPO:0007340) Lower limb muscle weakness 61 / 7739
13
(OMIM) Demyelinating motor and sensory neuropathy 1 / 7739
14
(OMIM) Decreased proprioception in the lower limbs 2 / 7739
15
(HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schule et al. (2009) reported a 3-generation German family with autosomal dominant complicated spastic paraplegia. The mean age at onset was 24 years (range, 14 to 33 years), and the phenotype included the core features of spastic gait, ...