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The National Organization for Rare Disorders, February 27, 2017
Rare Diseases Perspective
5 Things to Know About CIDPWhile a rare, often perplexing disease, chronic inflammatory demyelinating polyneuropathy is a treatable condition.
Medscape Neurology, September 20, 2019
Stop Incentivizing Drug Companies for More Rare Disease DrugsTime to revise the Orphan Drug Act, which gives extra payment to companies that develop drugs for rare diseases. The Act has fueled a price explosion and possibly hindered research into other drugs.
FDA OKs Nintedanib (Ofev) for Rare Lung DiseaseNintedanib capsules are approved for slowing the rate of decline in pulmonary function in adults with systemic sclerosis-associated interstitial lung disease.
News Alerts, September 9, 2019
Novel Therapeutic Approaches to Xeroderma PigmentosumThis review explores novel therapeutic approaches to xeroderma pigmentosum, focusing on targeting the molecular abnormalities that occur secondary to defects in nucleotide excision repair.
The British Journal of Dermatology, September 3, 2019
Psychotic Behavior and Loss of Speech in a 34-Year-Old Woman A 34-year-old woman has a 4-year history of psychotic behavior and neurocognitive decline. She has also demonstrated progressive motor regression and loss of speech. What's the diagnosis?
Young Girl With Clumsiness, Dystonia, and Speech Difficulty A 17-year-old girl who has demonstrated progressive clumsiness over the past 6 months now displays dystonic movement of her limbs and deteriorating speech and ability to walk. What's the diagnosis?
A 49-Year-Old Man With Pain at the Site of a Previous Fracture A 49-year-old man with a history of cervical spine fracture, diabetes mellitus, and hearing loss presents with increasing pain at the site of a previous femoral fracture. What's the diagnosis?
Conditions in Focus
Mucopolysaccharidosis type II MPS II, also known as Hunter syndrome, is a member of a group of inherited metabolic disorders collectively termed the mucopolysaccharidoses (MPSs). The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation of mucopolysaccharides or glycosaminoglycans (GAGs). Eleven distinct single lysosomal enzyme deficiencies are known to cause 7 different and recognized phenotypes of MPS. All of the MPSs are inherited in an autosomal recessive fashion, except for Hunter syndrome, which is inherited as X-linked recessive.
Paroxysmal Nocturnal Hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, debilitating disorder that most frequently presents in early adulthood and usually continuous throughout the life of the patient. PNH results in the death of approximately 50% of affected individuals due to thrombotic complications and, until recently, had no specific therapy...
Arginase Deficiency A history of delayed development, protein intolerance, and spasticity is suggestive of arginase deficiency. The typical presentation is that of an older infant whose development is delayed, who has occasional episodes of vomiting and somnolence without apparent cause, who is protein intolerant, and who shows evidence of long-tract neurological impairment.
