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

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Dystonia, Seizure, Ataxia
Muscles	5	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Brain atrophy
Eyes	2	Nystagmus, Hypometric saccades
Head and neck	2	High palate, Long face
Bones and joints	2	Sideways curvature of the spine (scoliosis), Joint contracture
Arms and legs	2	Limb dystonia, Limb ataxia

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

NKX6-2-related disorder should be suspected in individuals with the following clinical and brain MRI findings.

Clinical findings

Onset between birth and age five years of either spasticity or hypotonia with rapid progression to spasticity (typically manifesting as spastic quadriplegia in those with early onset)
Motor delay or developmental delay in those with a more severe phenotype
Nystagmus
Visual impairment manifest in severely affected children as loss of visual fixation and ocular pursuit and in older individuals as severe limitation of eye movements
Hearing impairment
Ataxia
Dystonia particularly involving the upper limbs

Brain MRI findings

Source: GeneReviews — "NKX6-2-Related Disorder"

GeneReviews

Differential Diagnosis

Hypomyelinating leukodystrophies and spastic ataxias (particularly when associated with hypomyelination) should be considered in the differential diagnosis of NKX6-2 related disorder. See . Table 2. Movement Disorders to Consider in the Differential Diagnosis of NKX6-2-Related Disorder

Disorder	Gene(s)	MOI	Overlapping Clinical Features	Distinguishing Clinical Features
Onset	Movement disorder	Brain MRI	Other Pelizaeus-Merzbacher disease (PMD) (See PLP1 Disorders.)

Genetic testing for NKX6-2 is available. Testing is considered confirmatory for diagnosis.

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 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy. 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 NKX6-2-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis of NKX6-2-Related Disorder

System/Concern	Evaluation	Comment
Constitutional	Height, weight, head circumference	Assess for evidence of failure to thrive.
Eyes	Ophthalmologic eval	Assess for:; vision;; Abnormal ocular movement.
Hearing	Audiologic eval	Assess for hearing loss.
Cardiovascular	Consideration of echocardiogram	To screen for congenital heart defects Respiratory
Musculoskeletal	Referral to specialist in pediatric pain mgmt	For those who have pain due to deforming joint contractures Referral to rehab specialist
Genitourinary

Source: GeneReviews — "NKX6-2-Related Disorder"

Clinical Trials

View trials for spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

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 5. Recommended Surveillance for Individuals with NKX6-2-Related Disorder

System/Concern	Evaluation	Frequency
Eyes	Visual acuity eye movement	At each visit
Hearing	Formal audiology assessment	As required Respiratory
Feeding	Measurement of growth parameters	At each visit Eval of nutritional status safety of oral intake Neurologic

Source: GeneReviews — "NKX6-2-Related Disorder"

Phenotype severity distribution: 10 always present features, 2 very common features, 14 common features.

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

Kisho

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

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

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

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