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Marinesco-Sjogren syndrome (MSS) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Myopathy, Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), and Ataxia and others; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Strabismus, and Hypergonadotropic hypogonadism. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Flexion contracture, Myopathy, Shrinkage of the cerebellum (cerebellar atrophy)
Brain and nerves	7	Gait ataxia, Ataxia, Intellectual disability
Bones and joints	4	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Sideways curvature of the spine (scoliosis)
Eyes	3	Strabismus, Nystagmus, Developmental cataract
Growth and development	2	Short stature, Failure to thrive
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Hormones	1	Hypergonadotropic hypogonadism
Head and neck	1	Microcephaly
Arms and legs	1	Limb ataxia

GeneReviews

Clinical Guidance

Marinesco-Sjgren syndrome (MSS) is characterized by cerebellar ataxia, dysarthria, nystagmus, early-onset cataracts, hypotonia, and muscle weakness. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and skeletal abnormalities. To date, at least 140 individuals have been identified with biallelic pathogenic variants in SIL1 [, , , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Marinesco-Sjgren Syndrome: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Cerebellar ataxia	90%	—
Cerebellar atrophy	100%

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

No consensus clinical diagnostic criteria for Marinesco-Sjgren syndrome (MSS) have been published.

Suggestive Findings

MSS should be suspected in probands with the following findings.

Clinical findings

Cerebellar ataxia, dysarthria, and nystagmus
Early-onset (not necessarily congenital) cataracts
Muscle weakness and hypotonia
Psychomotor delay
Hypergonadotropic hypogonadism (i.e., primary gonadal failure)
Short stature
Skeletal abnormalities (scoliosis; shortening of metacarpals, metatarsals, and phalanges; coxa valga; pes planovalgus; and pectus carinatum)

Imaging findings

Source: GeneReviews — "Marinesco-Sjgren Syndrome"

GeneReviews

Differential Diagnosis

Genetic disorders with features overlapping those of Marinesco-Sjgren syndrome (MSS) are listed in . Table 3. Disorders to Consider in the Differential Diagnosis of Marinesco-Sjgren Syndrome

Gene(s)	Disorder	MOI	Features of Disorder
Primary mitochondrial disorders	ADARMatXL	Myopathy; Cerebellar atrophy ataxia	Encephalopathy, seizures, dementia, migraine, stroke-like episodes often present; plasma/CSF lactate concentration; Cardiomyopathy
CTDP1

Genetic testing for SIL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Marinesco-Sjogren syndrome has been reported in the published literature.

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 Marinesco-Sjogren syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Marinesco-Sjgren syndrome (MSS) have been published. In the absence of published guidelines, the following recommendations are based on the author's personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MSS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Marinesco-Sjgren Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Neurologic	Neurologic/ physical medicine rehab/ PT OT eval	Eval of motor skills w/special attention to muscle strength cerebellar function Development
Ocular manifestations	Ophthalmologic exam for cataracts strabismus	—
Endocrine	Endocrinologic eval for hypergonadotropic hypogonadism delayed puberty	Growth/Nutrition
Skeletal manifestations	Assessment of skeletal manifestations incl scoliosis	—
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of MSS to facilitate medical personal decision making Family support

Source: GeneReviews — "Marinesco-Sjgren Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Marinesco-Sjgren Syndrome"

Clinical Trials

1 trial found

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

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Marinesco-Sjgren Syndrome: Recommended Surveillance

System/Concern	Evaluation	Frequency
Neurologic	Assessment by child or adult neurologist physiatrist /or physical therapist	Annually or as needed
Development	Monitoring of developmental progress educational needs	At each visit
Cataracts/Strabismus	Ophthalmologic exam to monitor for development of cataracts strabismus	Annually or as needed beginning in infancy
Hypergonadotropic hypogonadism	Monitoring of pubertal development	Throughout adolescence per endocrinologist
Growth/Nutrition	Assessment of growth feeding	At each visit Scoliosis

Source: GeneReviews — "Marinesco-Sjgren Syndrome"

Phenotype severity distribution: 7 always present features, 3 very common features, 3 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

189 publications have been identified in PubMed for Marinesco-Sjogren syndrome. Research spans Basic Science / Preclinical (35%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	66	35%
Research summaries	45	24%
Disease patterns and progression	34	18%
Patient case studies	16	8%
Testing and diagnosis research	12	6%
New treatment approaches	8	4%
Clinical study results	6	3%
Other research	2	1%

Recent Publications

Gold DR (2026). [PMID: 40693779](https://pubmed.ncbi.nlm.nih.gov/40693779/). *J Neuroophthalmol*. [Epidemiology / Natural History]
Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain*. [Epidemiology / Natural History]
Want K (2026). [PMID: 41372413](https://pubmed.ncbi.nlm.nih.gov/41372413/). *Nature*. [Basic Science / Preclinical]
van Prooije TH (2026). [PMID: 41504274](https://pubmed.ncbi.nlm.nih.gov/41504274/). *Mov Disord*. [Diagnostic / Biomarker]
Romano LE (2026). [PMID: 41771688](https://pubmed.ncbi.nlm.nih.gov/41771688/). *Life Sci Alliance*. [Basic Science / Preclinical]
Portillo-Carrasquer M (2026). [PMID: 41579709](https://pubmed.ncbi.nlm.nih.gov/41579709/). *Biomed Pharmacother*. [Basic Science / Preclinical]
Nguyen HT (2026). [PMID: 41514384](https://pubmed.ncbi.nlm.nih.gov/41514384/). *Stem Cell Res Ther*. [Review / Meta-Analysis]
Rummey C (2026). [PMID: 40708339](https://pubmed.ncbi.nlm.nih.gov/40708339/). *J Child Neurol*. [Clinical Trial Publication]
Buchignani B (2026). [PMID: 41897072](https://pubmed.ncbi.nlm.nih.gov/41897072/). *Children (Basel)*. [Review / Meta-Analysis]
Baumeister H (2026). [PMID: 41443080](https://pubmed.ncbi.nlm.nih.gov/41443080/). *EBioMedicine*. [Gene Therapy / Novel Therapeutics]

Kisho

Marinesco-Sjogren syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Marinesco-Sjogren syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team