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Items: 14

1.

Acute thyroiditis

Acute inflammation of the thyroid gland. [from NCI]

MedGen UID:
507399
Concept ID:
C0001360
Disease or Syndrome
2.

Periodic paralysis

Episodes of muscle weakness. [from HPO]

MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
3.

Thyrotoxic periodic paralysis, susceptibility to, 2

Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. [from MONDO]

MedGen UID:
413851
Concept ID:
C2750473
Finding
4.

Thyrotoxic periodic paralysis, susceptibility to, 1

Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). Genetic Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24. [from OMIM]

MedGen UID:
413199
Concept ID:
C2749982
Finding
5.

Channelopathy

A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. [from MeSH]

MedGen UID:
328427
Concept ID:
C1720983
Disease or Syndrome
6.

Potassium deficiency disease

Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. [from NCI]

MedGen UID:
271346
Concept ID:
C1514284
Disease or Syndrome
7.

Thyrotoxic periodic paralysis

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. [from ORDO]

MedGen UID:
120639
Concept ID:
C0268446
Disease or Syndrome
8.

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. 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 cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP. [from GeneReviews]

MedGen UID:
116058
Concept ID:
C0238358
Disease or Syndrome
9.

Paralysis

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. [from HPO]

MedGen UID:
105510
Concept ID:
C0522224
Finding
10.

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
11.

Hyperthyroidism

An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). [from HPO]

MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
12.

Inborn metal metabolism disorder

An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. [from MONDO]

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
13.

Hypokalemia

An abnormally decreased potassium concentration in the blood. [from HPO]

MedGen UID:
5712
Concept ID:
C0020621
Finding
14.

Asthenia

A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. [from HPO]

MedGen UID:
2107
Concept ID:
C0004093
Sign or Symptom
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