Symptoma

Mucolipidosis Type 1

Mucolipidosis 1S

The age of onset is typically in the teens or later Sialidosis Type II: It is the more severe form, presenting characteristic facial features. [dovemed.com]

Moreover, they did not present evocative cranio-facial dysmorphism. [gavinpublishers.com]

Macular cherry-red spots were present in all adequately described type I patients and all but three patients with type II disease. [scholars.northwestern.edu]

Conclusions: The presented patients illustrate the clinical heterogeneity of neuraminidase deficiency. [bib.irb.hr]

Mental retardation, myoclonus, and cherry red spots are present. Hepatosplenomegaly is typically absent. [ismrd.org]

  • Pathologist

    PMID: 20490927 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

  • Intestinal Perforation

    perforation in Behçet Syndrome: an unusual presentation. ( 30574248 ) Vicente CS...Freitas AD 2018 4 Cardiac thrombosis as a manifestation of Behçet syndrome. ( 20978571 ) Louali FE...Cherti M 2010 5 Altiner A...Mandal R 2010 6 Constitutional trisomy [malacards.org]

  • Constipation

    Naloxegol (Movantik) for Opioid-Induced Constipation The FDA has approved naloxegol ( Movantik – AstraZeneca), a pegylated derivative of the opioid antagonist naloxone, for oral treatment of opioid-induced constipation in adults with... [secure.medicalletter.org]

  • Hypotension

    Droxidopa (Northera) for Neurogenic Orthostatic Hypotension The FDA has approved droxidopa ( Northera – Lundbeck) for oral treatment of adults with symptomatic neurogenic orthostatic hypotension (NOH) caused by primary autonomic failure... [secure.medicalletter.org]

  • Visual Impairment

    Mucolipidosis IV (ML4) is a neurodegenerative condition that is characterised by significant psychomotor and cognitive development delay, visual impairment, and poor muscle tone. [jnetics.org]

    Either of two types of mucolipidosis caused by a deficiency of the enzyme neuraminidase (formerly called sialidase) and characterized by myoclonic seizures, cherry-red maculas in the retina with visual impairment, enlarged liver and spleen, and intellectual [medical-dictionary.thefreedictionary.com]

    • It is often associated with myoclonic epilepsy in juveniles or young adults, sometimes without visual impairment. • Eye and skeletal abnormalities may be helpful for the diagnosis. • Macular cherry-red spots may occur in otherwise asymptomatic patients [medlink.com]

    Most develop severe visual impairment due to retinal degeneration. Dysmorphic facial features and organomegaly is not commonly observed in ML IV. Affected individuals usually survive to adulthood, but overall life expectancy is reduced. [invitae.com]

    Brady Abstract Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. [pnas.org]

  • Localized Scleroderma

    They are followed for familial localized scleroderma started at the age of nine, eight and five respectively. Coming from a non-consanguineous marriage, the parents and the other two brothers are apparently healthy. [gavinpublishers.com]

  • Muscle Twitch

    twitches, lack of coordination, and seizures The more severe type II form can lead to fluid accumulation in the fetal abdomen, present coarse facial features (such as a large head, thickened skin, widely-spaced teeth), enlarged spleen and liver, bone [dovemed.com]

    Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. [ghr.nlm.nih.gov]

  • Torticollis

    During the upward gaze, the head was bent forward in a torticollis-like position. In both eyes, peripheral evaluation of the visual field, slit-lamp examination, and visual evoked potentials were normal. [healio.com]

  • Short Arm

    Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered. For example, chromosome 11p15.4 refers to band 15.4 on the short arm of chromosome 11. [rarediseases.org]

  • Hearing Impairment

    impairment Normal level of serum hydrolases IDUA Slowly progressive MPS I 6 AR Joint stiffness Corneal clouding Cardiac abnormalities Facial coarseness Dysostosis multiplex Organomegaly Cognitive impairment Hearing impairment Normal level of serum hydrolases [ncbi.nlm.nih.gov]

  • Cognitive Impairment

    It is characterized by cherry-red spots on the skin, coarse facial features, skeletal defects, and mild cognitive impairment. The disease is inherited as an autosomal recessive trait gene. [health-factbook.com]

    Neurologic abnormalities Cognitive impairment Normal level of serum hydrolases 1. [ncbi.nlm.nih.gov]

    ML III alpha/beta is a slowly progressive condition primarily affecting the skeletal system while also causing mildly coarse facial features and mild cognitive impairment. [invitae.com]

Type II complications may be fatal and can include progressive deterioration in vision, severe bone deformities, and stillbirths Treatment for Sialidosis is generally supportive, and is tailored to making the affected individual as comfortable as possible [dovemed.com]

Direct in style but comprehensive in content, with ample tables and summaries, the Handbook of Epilepsy Treatment covers: Treatment of the different forms and causes of epilepsy Treatment in the different commonly encountered clinical situations Treatment [books.google.com]

Several guidelines for treatment of psoriatic arthritis have been published. [secure.medicalletter.org]

Management and treatment There is no cure for ST-1 and management should be multidisciplinary to allow for adapted symptomatic treatment, which is essential for improving the quality of life of affected patients. [orpha.net]

Rapivab Marketed by: Biocryst Pharmaceuticals, Inc Indication: The FDA has approved Rapivab (peramivir), an influenza virus neuraminidase inhibitor, for the treatment of acute uncomplicated influenza in adults who have been symptomatic for no more than [pharmacytimes.com]

Medication to control seizures may be necessary, in some cases The prognosis of Sialidosis depends on the type of the disorder. [dovemed.com]

It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. [casereports.bmj.com]

Prognosis There appears to be no major effect on life expectancy but quality of life can be affected due to myoclonus and resulting mobility issues. [orpha.net]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

To date, its etiology remains mysterious but its aetiopathogenic mechanisms multifactorial. The offending factors are vascular, immunological, environmental and genetic. [gavinpublishers.com]

Abstract Mucolipidosis type IV is a unique autosomal recessive progressive neurodegenerative disorder of unknown etiology. There is minimal facial dysmorphism and absence of organomegaly. Most patients reported are of Ashkenazi Jewish descent. [nature.com]

Etiology ST-1 is due to a mutation of the N-acetyl-alpha-neuraminidase-1 ( NEU1 ) gene (6p21) encoding the lysosomal enzyme neuraminidase, that initiates the degradation of sialoglycoconjugates in lysosomes. [orpha.net]

HUS OF UNKNOWN ETIOLOGY HUS of unknown etiology occurs often in the course of a systemic disease, a physiopathologic condition or after the assumption of drugs. [wjgnet.com]

Brady Abstract Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. [pnas.org]

American Journal of Epidemiology. 160 : 169-976. Engeland, Anders; Børge, Tone; Selmer, Randi Marie; Tverdal, A. 2003. A height and body mass index in relation to total mortality. Epidemiology. 14 : 293-299. [uib.no]

An epidemiological and ... M, Bottachi E, D'Alessandro G, et al. [sok.helsebiblioteket.no]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

Summary Epidemiology The prevalence of ST-1 is unknown but it is less frequent than sialidosis type 2 (ST-2, see this term). [orpha.net]

Epidemiology Frequency International Sialidosis is a rare disorder that has no racial predilection. [emedicine.medscape.com]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.com]

Pathophysiology [ edit ] The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred to as glycoproteins ), which allows the cell to function properly. [en.wikipedia.org]

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol. 2001. 69:81-114. [Medline]. Riches WG, Smuckler EA. A severe infantile mucolipidosis. [emedicine.medscape.com]

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid res Mol Biol. 2001;69:81-114. Mancini GM, Havelaar AC, Verheijen FW. Lysosomal transport disorders. J inherit Metab Dis. 2000;23:278-92. [rarediseases.org]

[…] be fatal; most individuals succumb to the disorder, before they reach 20 years of age Please find comprehensive information on Sialidosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention [dovemed.com]

Annual vaccination is safe and effective in preventing disease and in reducing its severity. [mdedge.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.ro]

Any of several mutations may prevent the binding of oseltamivir by preventing the formation of this pocket (Panel B); the oseltamivir-resistant virus can nonetheless bind to the host-cell sialic acid receptor and to zanamivir. [nejm.org]

It has been used to treat and prevent influenza A virus and influenza B virus infection in over 50 million people since 1999. [22facts.com]