Autosomal recessive spastic paraplegia type 70

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002061 Lower limb spasticity Frequent (79-30%)
HP:0002378 Hand tremor Frequent (79-30%)
HP:0006530 Interstitial pulmonary abnormality Frequent (79-30%)
HP:0007020 Progressive spastic paraplegia Frequent (79-30%)
HP:0009830 Peripheral neuropathy Frequent (79-30%)
HP:0012447 Abnormal myelination Frequent (79-30%)
HP:0100022 Abnormality of movement Frequent (79-30%)
HP:0000100 Nephrotic syndrome Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MARS methionyl-tRNA synthetase 4141