- 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.
- Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia).
- Lambert-Eaton Myasthenic Syndrome
Overview 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 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.
- Ring Chromosome 20 Syndrome
Other 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 Anemia
Other 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 …