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autosomal recessive spastic paraplegia type 70 (SPG70) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 70

MONDO:0018422

Also known as:SPG70

Overview

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.

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Mild intellectual disability, Global developmental delay, Lower limb spasticity, and Hand tremor and others; and rarely findings: Nephrotic syndrome.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Mild intellectual disability, Global developmental delay, Lower limb spasticity

Diagnosis

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 70 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive spastic paraplegia type 70.

6 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 70. Research spans Epidemiology / Natural History (33%), Other (17%), and Diagnostic / Biomarker (17%).

Recent Publications

Agianda HAP (2026). [PMID: 41365832](https://pubmed.ncbi.nlm.nih.gov/41365832/). *Mov Disord*. [Epidemiology / Natural History]
Zhang F (2025). [PMID: 39853345](https://pubmed.ncbi.nlm.nih.gov/39853345/). *Neuroradiology*. [Epidemiology / Natural History]
Sallo FB (2025). [PMID: 39605873](https://pubmed.ncbi.nlm.nih.gov/39605873/). *Ophthalmol Sci*. [Diagnostic / Biomarker]
Bregant E (2025). [PMID: 40208338](https://pubmed.ncbi.nlm.nih.gov/40208338/). *Hum Genet*. [Basic Science / Preclinical]
Quiroz V (2025). [PMID: 39865903](https://pubmed.ncbi.nlm.nih.gov/39865903/). *Ann Clin Transl Neurol*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401835

GARD

Genetic and Rare Diseases Info Center

GARD:21700

Questions for Your Care Team

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autosomal recessive spastic paraplegia type 70

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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