Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hereditary spastic paraplegia 8 (SPG8) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb hyperreflexia, and Lower limb spasticity and others; and very common findings: Urinary urgency, Upper limb hyperreflexia, and Lower limb muscle weakness. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Difficulty swallowing (dysphagia), Babinski sign, Lower limb hyperreflexia
Arms and legs	6	Impaired vibration sensation in the lower limbs, Lower limb hyperreflexia, Lower limb spasticity
Kidneys and urinary system	3	Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysfunction
Digestive system	1	Difficulty swallowing (dysphagia)
Muscles	1	Lower limb muscle weakness

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 .

Source: GeneReviews — "Spastic Paraplegia 8"

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 hereditary spastic paraplegia 8. 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

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.

Source: GeneReviews — "Spastic Paraplegia 8"

GeneReviews

Therapies Under Investigation

reported two individuals with partial response to L-dopa, a finding that requires further study as the mechanism of action is unknown. Of the two studies currently recruiting patients with hereditary spastic paraplegia, one involves a therapy. The NCT04180098 study will assess the effectiveness of the physical therapy intervention C-Mill in improving gait adaptability. Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Spastic Paraplegia 8"

Clinical Trials

View trials for hereditary spastic paraplegia 8

Explore Trials

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	Evaluation	Frequency
Spasticity	Neurologic exam re disease progression response to current treatment	1-2 per yr
Bladder function	Per treating urologist, incl monitoring for urinary tract infection	1-2 per yr
Dysphagia	Gastroenterology / nutrition / feeding team re nutrition risk for aspiration	1-2 per yr
Dysarthria	Per neurologic speech/language assessment	1-2 per yr
Bowel function	Per symptoms	1-2 per yr
Mobility	Neurologic exam, rehabilitation medicine, PT assessment	1-2 per yr
Activities of daily living	OT PT	As needed
Clinical depression	Per mental health clinician	1-2 per yr OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Spastic Paraplegia 8"

Phenotype severity distribution: 5 always present features, 3 very common features, 2 common features.

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

Kisho

hereditary spastic paraplegia 8

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

hereditary spastic paraplegia 8

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team