Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 41

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.

Muscle weakness

Reduced strength of muscles. [from HPO]

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

Muscle weakness

A reduction in the strength of one or more muscles. [from NCI]

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

Fatigue

A subjective feeling of tiredness characterized by a lack of energy and motivation. [from HPO]

MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
6.

Ouabain product

A cardioactive glycoside consisting of rhamnose and ouabagenin, obtained from the seeds of Strophanthus gratus and other plants of the Apocynaceae; used like DIGITALIS. It is commonly used in cell biological studies as an inhibitor of the NA(+)-K(+)-EXCHANGING ATPASE. [from MeSH]

MedGen UID:
18228
Concept ID:
C0029904
Organic Chemical; Pharmacologic Substance
7.

Hyperkalemic Periodic Paralysis

MedGen UID:
893401
Concept ID:
CN239391
Disease or Syndrome
8.

Periodic paralysis

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

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
10.

Periodic paralysis

Episodes of muscle weakness. [from HPO]

MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
11.

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 GTR]

MedGen UID:
442147
Concept ID:
CN074266
Disease or Syndrome
12.

Triggered by

A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. [from HPO]

MedGen UID:
252950
Concept ID:
C1444748
Qualitative Concept
13.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
14.

Familial hyperkalemic periodic paralysis

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 GTR]

MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
15.

Fiber

An elongated, tapering, generally thick-walled sclerenchyma cell of vascular plants; its walls may or may not be lignified. [from NCI_FDA]

MedGen UID:
68338
Concept ID:
C0225326
Organic Chemical; Pharmacologic Substance
16.

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
17.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
18.

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
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Course of illness

The worsening of a disease over time. [from NCI]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center