Phenotypes associated with the disease Thyrotoxic periodic paralysis (ORPHA:79102):
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Postprandial hyperglycemia (HP:0011998): An increased concentration of glucose in the blood following a meal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79102)
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79102)
- Late-onset proximal muscle weakness (HP:0003694): Lack of strength of the proximal musculature occurring late in the clinical course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79102)
- Shortened PR interval (HP:0005165): Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79102)
- Second degree atrioventricular block (HP:0011706): An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79102)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79102)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79102)
- Respiratory paralysis (HP:0002203): Inability to move the muscles of respiration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79102)
- Hyperthyroidism (HP:0000836): 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). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79102)
- Periodic hypokalemic paresis (HP:0008153): Episodes of muscle weakness associated with reduced levels of potassium in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79102)
- Episodic hypokalemia (HP:0012726): An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79102)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Paralysis (HP:0003470): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Episodic flaccid weakness (HP:0003752): Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Abnormal muscle fiber morphology (HP:0004303): Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Mildly elevated creatine kinase (HP:0008180). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Transient hypophosphatemia (HP:0008285). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Thyrotoxicosis with diffuse goiter (HP:0011784). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Thyrotoxicosis with toxic multinodular goiter (HP:0011785). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Thyrotoxicosis with toxic single thyroid nodule (HP:0011786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Increased intramyocellular lipid droplets (HP:0012240): An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Decreased urinary potassium (HP:0012364): A decreased concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Graves disease (HP:0100647): An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79102)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79102)
Not associated with this disease:
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: TAS. (ORPHA:79102)
- Abnormality of peripheral nerve conduction (HP:0003134): An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). Evidence: TAS. (ORPHA:79102)
- Impaired myocardial contractility (HP:0006670). Evidence: TAS. (ORPHA:79102)