Autosomal dominant spastic paraplegia type 38
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG38 |
| Number of Symptoms | 14 |
| OrphanetNr: | 171617 |
| OMIM Id: |
612335
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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 dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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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:0002166) | Impaired vibration sensation in the lower limbs | 26 / 7739 | ||||
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(HPO:0002061) | Lower limb spasticity | 56 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0003393) | Thenar muscle atrophy | 10 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0003392) | First dorsal interossei muscle weakness | 5 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003427) | Thenar muscle weakness | 5 / 7739 | ||||
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(HPO:0003426) | First dorsal interossei muscle atrophy | 5 / 7739 | ||||
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Orlacchio et al. (2008) reported a large 4-generation Italian family in which 19 individuals had autosomal dominant spastic paraplegia. The mean ages at onset in the lower and upper limbs were 16.8 and 18.5 years, respectively. All patients ... |