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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

The condition is characterized by a cherry-red spot on the macula, progressive myoclonus, and seizures. There are two types. Type 1 patients have normal physical features and beta-galactosidase levels. [medical-dictionary.thefreedictionary.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]

[…] that has been grouped in two forms: the milder type I, with myoclonus, ataxia and ocular cherry-red spots (the cherry-red spot-myoclonus syndrome), and the severe or dysmorphic type II (formerly mucolipidosis I; Fig. 1 ). with psychomotor retardation, [link.springer.com]

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

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]