Overview of the Mucopolysaccharidoses

  Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare,...

Hypokalemic Periodic Paralysis

Other Names: HOKPP; HypoPP Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). Episodes typically involve a temporary inability to move muscles in the arms and...

Mucopolysaccharidosis type VII (Sly Syndrome)

Other names: MPS VII, Beta-glucuronidase deficiency, Mucopolysaccharidosis type 7, MPS 7, Sly syndrome, Mucopolysaccharidosis type VII, GUSB deficiency Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome, is a rare, progressive lysosomal storage...

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. Early signs of DMD may include...

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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