X-linked spastic paraplegia type 34
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG34 |
| Number of Symptoms | 11 |
| OrphanetNr: | 171607 |
| OMIM Id: |
300750
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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: | 24 cases [Orphanet] |
| Inheritance: |
X-linked recessive X-linked [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
X-linked pure spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0002169) | Clonus | 37 / 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:0002495) | Impaired vibratory sensation | 26 / 7739 | ||||
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(OMIM) | Decreased vibratory sense after sixth decade | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(OMIM) | Ankle and patellar clonus | 2 / 7739 | ||||
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(OMIM) | Spastic paraplegia, pure | 1 / 7739 | ||||
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(OMIM) | Upper limbs may show hyperreflexia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Zatz et al. (1976) reported a large Brazilian family in which 24 males spanning 5 generations had pure spastic paraplegia affecting only the lower limbs. Inheritance was X-linked recessive. Onset was in late childhood or adolescence and showed ... |