National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Marinesco-Sjogren syndrome


Other Names:
MSS; Marinesco-Garland Syndrome; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism; MSS; Marinesco-Garland Syndrome; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism; Marinesco-Sjogren Syndrome-Myopathy; Marinesco-Sjogren-Garland Syndrome See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 559

Definition
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Epidemiology
Prevalence is most likely below 1 to 9/1 000 000. Disease onset occurs in infancy.

Clinical description
Dysarthria, nystagmus, muscle weakness and hypotonia are frequent symptoms. Areflexia is associated with a demyelinating peripheral neuropathy. Some patients show episodes of rhabdomyolysis with sustained or episodic elevation of serum creatin kinase. Hypergonadotropic hypogonadism is a frequently associated feature. Muscle pathology consists of extensive neurogenic atrophy and myopathic changes with rimmed vacuoles. Cerebellar cortical atrophy with vacuolated or binuclear Purkinje cells is also observed.

Etiology
It has been suggested that the MSS with myoglobinuria and congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndromes are genetically identical as they both map to chromosome 18qter. In contrast, a locus for classical MSS has been assigned to chromosome 5q31 and mutations have recently been identified in SIL1, a gene encoding a factor involved in proper protein folding. Loss of SIL1 function results in accumulation of unfolded proteins, harmful to the cell.

Diagnostic methods
Diagnosis is based on clinical symptoms. Ophthalmologic examination should be performed to detect cataracts and MRI (Magnetic Resonance Imaging) scan allows investigation of cerebellar atrophy particularly involving the vermis. Muscle biopsy findings are generally non-specific.

Antenatal diagnosis
Prenatal diagnosis with molecular genetic techniques can be performed if a mutation is known in the family.

Management and treatment
Treatment is symptomatic. Cataracts often require surgical removal to preserve vision. Hormonal replacement therapy may be needed if hypogonadism is present. Physical and occupational therapy are crucial.

Prognosis
Patients can survive to old age, with varying disability.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal aldolase level 0012400
Abnormal circulating creatine kinase concentration
Abnormal levels of creatine kinase in blood
0040081
Abnormal lactate dehydrogenase level 0045040
Abnormality of the cerebellar vermis 0002334
Aplasia/Hypoplasia involving the skeletal musculature
Absent/small skeletal muscles
Absent/underdeveloped skeletal muscles
[ more ] 		0001460
Ataxia 0001251
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ] 		0001321
Dysarthria
Difficulty articulating speech
0001260
Dysphonia
Inability to produce voice sounds
0001618
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Global developmental delay 0001263
Hypogonadism
Decreased activity of gonads
0000135
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Muscular hypotonia
Low or weak muscle tone
0001252
Myopathy
Muscle tissue disease
0003198
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Specific learning disability 0001328
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
30%-79% of people have these symptoms
Abnormality of finger
Abnormalities of the fingers
0001167
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Avascular necrosis of the capital femoral epiphysis 0005743
Brachydactyly
Short fingers or toes
0001156
Coxa valga 0002673
Dyskinesia
Disorder of involuntary muscle movements
0100660
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hip dysplasia 0001385
Metatarsus valgus 0010508
Muscle flaccidity 0010547
Muscle stiffness 0003552
Muscular dystrophy 0003560
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pectus carinatum
Pigeon chest
0000768
Rigidity
Muscle rigidity
0002063
Scoliosis 0002650
Short palm 0004279
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Optic atrophy 0000648
Peripheral neuropathy 0009830
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Centrally nucleated skeletal muscle fibers 0003687
Cerebellar cortical atrophy 0008278
Cubitus valgus
Outward turned elbows
0002967
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hypergonadotropic hypogonadism 0000815
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Limb ataxia 0002070
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Progressive muscle weakness 0003323
Psychomotor retardation 0025356
Rimmed vacuoles 0003805
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743
Short stature
Decreased body height
Small stature
[ more ] 		0004322
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Marinesco-Sjogren syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marinesco-Sjogren syndrome. Click on the link to view a sample search on this topic.

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