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The disease presents in a classic triad of symptoms, which are memory impairment, urinary frequency, and balance problems/gait deviations (note: this diagnosis method is obsolete [5] [6]). The disease was first described by Salomón Hakim and Raymond Adams in 1965.
Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ex vacuo, and normal pressure hydrocephalus. Diagnosis is made by physical examination and medical imaging, such as a CT scan. [1] Hydrocephalus is typically treated through surgery. One option is the placement of a shunt system. [1]
Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.
The most common symptoms include: [5] [6] [7] Chronic cough; Shortness of breath or dyspnea when exercising or exerting one's self; Wheezing (less frequent) Hemoptysis (Infrequent) Symptoms may be present for many years prior to diagnosis and are often ascribed to other lung conditions.
Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. [1] [2] The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. [1]
The disease was renamed benign intracranial hypertension in 1955 to distinguish it from intracranial hypertension due to life-threatening diseases (such as cancer); [30] however, this was also felt to be misleading because any disease that can blind someone should not be thought of as benign, and the name was therefore revised in 1989 to ...
The average lifespan after the onset of symptoms in patients with MSA is 6–10 years. [4] Approximately 60% of patients require a wheelchair within five years of onset of the motor symptoms, and few patients survive beyond 12 years. [4] The disease progresses without remission at a variable rate.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).