10393 San Diego Mission Rd, Suite 120
San Diego, CA 92108-2134
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
(Contributed by Dr. Simona Treidler.)
Nov. 10, 2020
Childhood Degenerative & Metabolic Disorders
Feb. 18, 2021
Jun. 01, 2020
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited urea cycle disorder and the only one to be transmitted as an X-linked trait.
Aug. 04, 2019
Headache & Pain
Primary cough headache is typically bilateral, has a sudden onset, and, after peaking, almost immediately dissipates over seconds to a few minutes, with the ICHD-3 permitting residual pain for up to 2 hours. It is precipitated rather than aggravated by coughing. The International Headache Society criteria specify that structural lesions must be ruled out by neuroimaging before the diagnosis of primary cough headache can be made.
Mar. 24, 2020
Posttraumatic headache is common following head or neck trauma. The International Headache Society defines posttraumatic headache as “acute” if headache develops within the first 7 days after the accident and resolves within the first 3 months and “persistent” if headache lasts longer than 3 months. Therapeutic treatment of posttraumatic headache should be individualized and comply with the treatment options for the underlying or accompanying primary headache disorders it resembles.
May. 22, 2019
Hereditary galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency is 1 of the inborn errors of carbohydrate metabolism and can
Jan. 22, 2017
Behavioral & Cognitive Disorders
Dementia with Lewy bodies (DLB) is an age-associated neurodegenerative dementia characterized by the postmortem findings of pathologically misfolded alpha-synuclein protein aggregations in the form of Lewy bodies and Lewy neurites in the CNS. The majority of patients with DLB also have a moderate to severe level of Alzheimer disease plaque and tangle pathology sufficient for a secondary neuropathological diagnosis of Alzheimer disease. Clinically, this syndrome is associated with a prominent dementia with simultaneous, or later developing, extrapyramidal symptoms (ie, parkinsonism); however, not all patients with DLB develop clinical parkinsonism.
Nov. 20, 2017