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Items: 12

1.

Sjögren syndrome

Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters. [from GTR]

MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
2.

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis (HOKPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (<2.5 mmol/L), and occasionally may develop late-onset proximal myopathy. The paralytic attacks are characterized by reversible flaccid paralysis usually leading to paraparesis or tetraparesis but typically sparing the respiratory muscles and heart. Acute paralytic crises usually last at least several hours and sometimes days. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are carbohydrate-rich meals and rest after exercise; rarely, cold-induced hypokalemic paralysis has been reported. The interval between crises may vary and may be prolonged by preventive treatment with potassium salts or acetazolamide. The age of onset of the first attack ranges from one to 20 years; the frequency of attacks is highest between ages 15 and 35 and then decreases with age. A variable myopathy develops in at least 25% of affected individuals and may result in a progressive fixed muscle weakness that manifests at variable ages as exercise intolerance predominantly in the lower limbs. It may occur independent of paralytic symptoms and may be the sole manifestation of HOKPP. Individuals with HOKPP are at increased risk for pre- or post-anesthetic weakness and may be at an increased risk for malignant hyperthermia – though not as great a risk as in individuals with true autosomal dominant malignant hyperthermia susceptibility (MHS). [from GTR]

MedGen UID:
116058
Concept ID:
C0238358
Disease or Syndrome
3.

Paralysis

A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) [from MeSH]

MedGen UID:
105510
Concept ID:
C0522224
Finding
4.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Periodic paralysis

MedGen UID:
834029
Concept ID:
CN231077
Disease or Syndrome
6.

Periodic

Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length. [from HPO]

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
7.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
8.

Periodic paralysis

Episodes of muscle weakness. [from HPO]

MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
9.

Familial periodic paralysis

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. [from NCI]

MedGen UID:
18291
Concept ID:
C0030443
Disease or Syndrome
10.

Distal renal tubular acidosis

Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. [from ORDO]

MedGen UID:
879717
Concept ID:
CN200440
Disease or Syndrome
11.

Distal renal tubular acidosis

A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [from HPO]

MedGen UID:
853429
Concept ID:
C1704380
Disease or Syndrome
12.

Respiratory arrest

Cessation of breathing function. [from NCI]

MedGen UID:
57878
Concept ID:
C0162297
Pathologic Function
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