Overview of the Mucopolysaccharidoses

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.

Hypokalemic Periodic Paralysis

Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia).

Mucopolysaccharidosis type VII (Sly Syndrome)

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare, progressive lysosomal storage disease first described in 1973 by Dr. William Sly. It is caused by the inherited deficiency of the β-glucuronidase enzyme due to mutations in the beta-glucuronidase (GUSB) gene.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles.

Neonatal Onset Multisystem Inflammatory Disease (NOMID)

Other Names: CINCA syndrome; CINCA; Infantile Onset Multisystem Inflammatory Disease; IOMID; Chronic Infantile Neurological Cutaneous Articular syndrome; NOMID; Multisystem inflammatory disease, neonatal-onset; Prieur Griscelli syndrome. Neonatal onset multisystem...

Still’s Disease (Adult Onset)

Other Names: Adult Still’s disease; Still’s disease adult onset. Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic...
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