Rare Rheumatology News
Disease Profile
Marinesco-Sjogren syndrome
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
G11.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MSS; Marinesco-Garland Syndrome; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism;
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
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.
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.
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.
Patients can survive to old age, with varying disability.
Visit the Orphanet disease page for more resources.
Symptoms
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.
| 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 |
| 0001251 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
|
Difficulty articulating speech
|
0001260 | |
| Dysphonia |
Inability to produce voice sounds
|
0001618 |
| External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
| Global |
0001263 | |
|
Decreased activity of gonads
|
0000135 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Specific learning disability | 0001328 | |
|
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 | |
|
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 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Rigidity |
Muscle rigidity
|
0002063 |
| 0002650 | ||
| Short palm | 0004279 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
|
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 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Optic atrophy | 0000648 | |
| 0009830 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| 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 |
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 |
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
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