Sialidosis type I - Rare Cardiology News

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Disease Profile

Sialidosis type I

<1 >

US Estimated

Europe Estimated

Age of onset

Childhood

ICD-10

E77.1

Inheritance

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.

X-linked
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)

Cherry red spot myoclonus syndrome; Myoclonus cherry red spot syndrome

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

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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]

Related diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis is galactosialidosis (see this term), which is characterized by deficiencies in both neuraminidase and beta-galactosidase. Visit the Orphanet disease page for more information.

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

Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
#218-2055 Commercial Drive
Vancouver, BC V5N OC7
Canada
Toll-free: 800-667-1846
Telephone: 604-924-5130
Fax: 604-924-5131
E-mail: [email protected]
Website: https://www.mpssociety.ca
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Toll-free: (844) 762-7672
E-mail: [email protected]
Website: https://hideandseek.org
National MPS Society
P.O. Box 14686
Durham, NC 27709-4686
Toll-free: 1-877-MPS-1001 (1-877-677-1001)
Telephone: +1-919-806-0101
Fax: +1-919-806-2055
E-mail: [email protected]
Website: https://mpssociety.org/
Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
HP7 9LP
United Kingdom
Telephone: (+44) 0345 389 9901
E-mail: [email protected]
Website: https://www.mpssociety.co.uk
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: [email protected]
Website: https://www.ismrd.org/

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

The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
Genetics Home Reference (GHR) contains information on Sialidosis type I. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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

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

Sialidosis. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.
Roth KS. Sialidosis (Mucolipidosis I): Treatment & Medication. Medscape Reference. December 13, 2013; https://emedicine.medscape.com/article/948704-treatment. Accessed 8/13/2015.
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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Childhood

E77.1

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.

X-linked
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)

Categories

Summary

Symptoms

Treatment

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

Rare Cardiology News

Rare Cardiology News

Childhood

E77.1

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.

X-linked 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)

Categories

Summary

Symptoms

Treatment

Related diseases

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

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.

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