Rare Cardiology News

Disease Profile

Sialidosis type I

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

E77.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Cherry red spot myoclonus syndrome; Myoclonus cherry red spot syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties.[1] Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings.[2] Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.[1]

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
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine

[ more ]

0003355
Ataxia
0001251
Cherry red spot of the macula
0010729
Coarse facial features
Coarse facial appearance
0000280
Corneal opacity
0007957
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dysostosis multiplex
0000943
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hyperkeratosis
0000962
Increased urinary O-linked sialopeptides
0003461
Myoclonus
0001336
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pectus carinatum
Pigeon chest
0000768
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Retinopathy
Noninflammatory retina disease
0000488
Scoliosis
0002650
Seizure
0001250
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia
0002652
Slurred speech
0001350
Splenomegaly
Increased spleen size
0001744
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Urinary excretion of sialylated oligosaccharides
0012061
Vascular skin abnormality
0011276
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Decreased nerve conduction velocity
0000762
EEG abnormality
0002353
Frontal bossing
0002007
Hernia
0100790
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscle weakness
Muscular weakness
0001324
Muscular hypotonia
Low or weak muscle tone
0001252
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Tremor
0001337
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Kyphosis
Hunched back
Round back

[ more ]

0002808
Percent of people who have these symptoms is not available through HPO
Ascites
Accumulation of fluid in the abdomen
0001541
Autosomal recessive inheritance
0000007
Bone-marrow foam cells
0004333
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Cardiomyopathy
Disease of the heart muscle
0001638
Dysmetria
Lack of coordination of movement
0001310
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
Facial edema
Facial puffiness
Facial swelling

[ more ]

0000282
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hepatomegaly
Enlarged liver
0002240
Hydrops fetalis
0001789
Hyperreflexia
Increased reflexes
0001347
Inguinal hernia
0000023
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Vacuolated lymphocytes
0001922

Treatment

There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.[3][4]

Organizations

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

    Learn more

    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

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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 Sialidosis type I. Click on the link to view a sample search on this topic.

        References

        1. Sialidosis. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
        2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.
        3. Roth KS. Sialidosis (Mucolipidosis I): Treatment & Medication. Medscape Reference. December 13, 2013; https://emedicine.medscape.com/article/948704-treatment. Accessed 8/13/2015.
        4. Maire I, Froissart R. Sialidosis type 1. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=812. Accessed 8/13/2015.

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