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Items: 1 to 20 of 21

1.

Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [from HPO]

MedGen UID:
10238
Concept ID:
C0027125
Finding
2.

Aggravated by

Something that makes a condition worse. For example, tobacco smoke is an aggravating factor for asthma. [from NCI_NCI-GLOSS]

MedGen UID:
452525
Concept ID:
C0436331
Finding
3.

Paralysis

Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. . Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include. -Nerve diseases such as amyotrophic lateral sclerosis. - Autoimmune diseases such as Guillain-Barre syndrome. - Bell's palsy, which affects muscles in the face. Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.  [from MedlinePlus]

MedGen UID:
105510
Concept ID:
C0522224
Finding
4.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
5.

Methionine

a kind of amino acid [from CHV]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Hyperkalemic Periodic Paralysis

MedGen UID:
893401
Concept ID:
CN239391
Disease or Syndrome
7.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
8.

Periodic paralysis

MedGen UID:
834029
Concept ID:
CN231077
Disease or Syndrome
9.

Weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
10.

Periodic

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
11.

Periodic paralysis

Episodes of muscle weakness. [from HPO]

MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
12.

Hyperkalemic Periodic Paralysis Type 1

Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. Although the absence of paramyotonia (muscle stiffness aggravated by cold and exercise) was originally postulated as a means of distinguishing hyperPP from paramyotonia congenita (PMC), approximately 45% of individuals with hyperPP have paramyotonia. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. Potassium-rich food or rest after exercise may precipitate an attack. A cold environment and emotional stress provoke or worsen the attacks. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then disappears. Cardiac arrhythmia or respiratory insufficiency usually does not occur during attacks. Between attacks, approximately half of individuals with hyperPP have mild myotonia (muscle stiffness) that does not impede voluntary movements. More than 80% of individuals with hyperPP older than 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy. [from GeneReviews]

MedGen UID:
442147
Concept ID:
CN074266
Disease or Syndrome
13.

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
14.

Familial periodic paralysis

A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481) [from MeSH]

MedGen UID:
18291
Concept ID:
C0030443
Disease or Syndrome
15.

Neuromuscular Manifestations

Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves. [from MeSH]

MedGen UID:
199852
Concept ID:
C0752252
Sign or Symptom
16.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
17.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
18.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding
19.

Hyperkalemic Periodic Paralysis Type 2

MedGen UID:
483400
Concept ID:
C3489447
Disease or Syndrome
20.

Genetic periodic paralysis

MedGen UID:
833560
Concept ID:
CN229145
Finding
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