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pure hereditary spastic paraplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pure hereditary spastic paraplegia

MONDO:0015149

Also known as:Pure HSPPure SPGPure familial spastic paraplegia

Overview

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Spastic paraplegia 8 (SPG8) is characterized by progressive lower-limb spasticity with hyperreflexia and extensor plantar reflexes. While intra- and interfamilial phenotypic variability is high, SPG8 is typically more severe than other types of hereditary spastic paraplegia. Onset is between ages ten and 59 years (range: 18-26 years in 1 family and 35-53 years in another ). SPG8 is more often associated with wheelchair dependence than other types of autosomal dominant hereditary spastic paraplegia. In one family of 15 affected individuals, insidiously progressive spastic paraparesis began between ages 22 and 60 years (average: 37.2 years); ten of the 15 were wheelchair bound by age 40 years . In another large family, six of 15 affected family members were wheelchair dependent .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Spastic paraplegia 8 (SPG8) should be suspected/considered in individuals with the following clinical and neuroimaging findings and family history [, , , ].

Clinical findings

Onset in the 20s and 30s (range: age 20-60 years)
Slowly progressive "pure" spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for pure hereditary spastic paraplegia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with spastic paraplegia 8 (SPG8), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with Spastic Paraplegia 8

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with Spastic Paraplegia 8

System/Concern

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 pure hereditary spastic paraplegia.

30 publications have been identified in PubMed for pure hereditary spastic paraplegia. Research spans Case Report / Case Series (41%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	12	41%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:102012

GARD

Genetic and Rare Diseases Info Center

GARD:19822

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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System/Concern	Evaluation	Comment
Spasticity	Neurologic exam	Assess degree of spasticity assoc signs.
Musculoskeletal	Orthopedics / physical medicine rehabilitation / PT eval	To incl assessment of:; Muscle tone; joint range of motion; posture; mobility; strength, coordination endurance; pain; bedsores; Need for adaptive devices; Footwear needs; PT needs OT
Bladder function	Referral to urologist; consider urodynamic eval.	To address spastic bladder symptoms: urgency, frequency, difficulty voiding
Bowel function	Referral to gastroenterologist	To assess constipation fecal incontinence1 Bulbar muscle
weakness	Assessment by speech language pathologist	Speech disorder (dysarthria); Swallowing disorder (dysphagia)
Mental health	Eval for symptoms of depression	Genetic
counseling	By genetics professionals2	To inform affected individuals their families re nature, MOI, implications of SPG8 to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Spastic Paraplegia 8 Manifestation/Concern	Treatment	Considerations/Other
Spasticity	Individualized PT program	Stretching exercises to improve flexibility, spasticity maintain or improve joint range of motion prevent joint contractures; Strengthening exercises to improve posture; walking; arm strength to improve use of mobility aids; activites of daily living Antispasmodic drugs
Bladder function	Spastic bladder symptoms: urgency, frequency, difficulty voiding	Treatment can incl anticholinergics such as oxybutynin (Ditropan XL®), solifenacin (Vesicare®), and mirabegron (Myrbetriq®).
Dysphagia	Gastroenterology / nutrition / feeding team eval	Determine exact cause of swallowing malfunction; modify food types consistency, head positioning during swallowing, exercises to improve swallowing.
Dysarthria	Speech language pathologist	To help maintain vocal control; improve speech, breathing techniques, communication in general
Bowel function	Symptoms: constipation fecal incontinence	Stool softeners Mobility
daily living	PT	Transfers (e.g., from bed to wheelchair, wheelchair to car); Training how to fall to minimize risk of injury OT
depression	Psychiatry	Psychotherapy SSRI
Social support	Social services support groups	To help cope w/diagnosis OT = occupational therapy; PT = physical therapy; SSRI = selective serotonin reuptake inhibitor 1. Demonstrated by in a randomized controlled trial. Oral baclofen can be tried first, and can also be used with an intrathecal pump in some cases.

Kisho

pure hereditary spastic paraplegia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

pure hereditary spastic paraplegia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications