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Results: 6

1.

LARYNGOSPASM, SEVERE NEONATAL EPISODIC

MedGen UID:
460867
Concept ID:
C3149517
Disease or Syndrome
2.

Potassium aggravated myotonia

MedGen UID:
444151
Concept ID:
C2931826
Disease or Syndrome
3.

Hyperkaliemic periodic paralysis type 2

MedGen UID:
418942
Concept ID:
C2930895
Disease or Syndrome
4.

MYASTHENIC SYNDROME DUE TO MUTATION IN SCN4A

MedGen UID:
349046
Concept ID:
C1858889
Disease or Syndrome
5.

Potassium aggravated myotonia

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. [from OMIM]

MedGen UID:
156269
Concept ID:
C0752355
Disease or Syndrome
6.

Familial hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands. Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.
[from GHR]

MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome

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