Musculoskeletal Diseases
Duchenne Muscular DystrophyDuchenne 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.
Hypokalemic Periodic ParalysisHypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia).
Lambert-Eaton Myasthenic SyndromeOverview Lambert Eaton myasthenic syndrome is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electr …
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.
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 …
Overview of the MucopolysaccharidosesHeather 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.
Ring Chromosome 20 SyndromeOther Names: Ring-Shaped Chromosome 20 or r(20) Syndrome Ring Chromosome 20 is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorde …
Sanfilippo Syndrome (Mucopolysaccharidosis III)Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; Heparan sulfate sulfatase deficiency Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosom …
Sickle Cell AnemiaOther Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your bod …
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 arthritis a …