Autosomal recessive spastic paraplegia type 32
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG32 |
| Number of Symptoms | 15 |
| OrphanetNr: | 171622 |
| OMIM Id: |
611252
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| ICD-10: |
G11.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002061) | Lower limb spasticity | 56 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0011448) | Ankle clonus | 31 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0002355) | Difficulty walking | 61 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Pontine dysraphia | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Stevanin et al. (2007) reported a consanguineous Portuguese family in which 3 sibs had slowly progressive complicated spastic paraplegia. The patients were first examined at ages 20 to 24 years but reported onset of difficulty walking at 6 ... |