Rare Diseases

Newborn Screening for Rare Diseases: Early Diagnosis, Treatment Essential A parent's story with two different outcomes illustrates why newborn screening is so important in the early diagnosis and treatment of rare disorders.
The National Organization for Rare Disorders, February 27, 2017

Rare Diseases Perspective

Rare and Unusual Psychiatric Syndromes: A Primer There are several psychiatric illnesses that, although rarely seen in clinical practice, should be identifiable by physicians. Here are just a few.
Medscape Psychiatry, July 23, 2018
For Your Patients: Clinical Trials Help Researchers Create New Cancer Drugs Dr Bruce Chabner explains how clinical trials pave the way for new treatments and the benefits of participating in one.
May 4, 2018

Alert FDA Approves First Oral Drug for Fabry Disease Migalastat (Galafold) is for adults with Fabry disease who have a genetic mutation amenable to treatment based on laboratory data.
FDA Approvals, August 13, 2018
Alert FDA OKs Patisiran (Onpattro) for Polyneuropathy in hAATR Patisiran is the first FDA-approved treatment for polyneuropathy caused by hATTR and the first RNA-based therapy to treat a rare disease.
FDA Approvals, August 10, 2018

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?

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.