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Results: 9

1.

Hyperkaliemic periodic paralysis type 2

MedGen UID:
418942
Concept ID:
C2930895
Disease or Syndrome
2.

Paramyotonia Congenita Without Cold Paralysis

MedGen UID:
358369
Concept ID:
C1868619
Disease or Syndrome
3.

Paralysis Periodica Paramyotonia

MedGen UID:
358368
Concept ID:
C1868618
Disease or Syndrome
4.

Paramyotonia congenita of von eulenburg

Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most people—even those without muscle disease—feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. [from GHR]

MedGen UID:
358367
Concept ID:
C1868617
Disease or Syndrome
5.

Normokalemic periodic paralysis, potassium-sensitive

MedGen UID:
356973
Concept ID:
C1868433
Disease or Syndrome
6.

MYASTHENIC SYNDROME DUE TO MUTATION IN SCN4A

MedGen UID:
349046
Concept ID:
C1858889
Disease or Syndrome
7.

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 GeneReviews]

MedGen UID:
116058
Concept ID:
C0238358
Disease or Syndrome
8.

Paramyotonia congenita

MedGen UID:
113142
Concept ID:
C0221055
Disease or Syndrome
9.

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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