From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Hypoesthesia- MedGen UID:
- 6974
- •Concept ID:
- C0020580
- •
- Finding
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Abnormal reflex- MedGen UID:
- 19707
- •Concept ID:
- C0034933
- •
- Finding
Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
Myokymia- MedGen UID:
- 146882
- •Concept ID:
- C0684219
- •
- Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Difficulty running- MedGen UID:
- 108251
- •Concept ID:
- C0560346
- •
- Finding
Reduced ability to run.
Myotonia- MedGen UID:
- 675119
- •Concept ID:
- C0700153
- •
- Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Percussion myotonia- MedGen UID:
- 148293
- •Concept ID:
- C0751359
- •
- Finding
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Exercise-induced muscle cramps- MedGen UID:
- 383715
- •Concept ID:
- C1855578
- •
- Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced muscle stiffness- MedGen UID:
- 343388
- •Concept ID:
- C1855579
- •
- Finding
A type of muscle stiffness that occurs following physical exertion.
Skeletal muscle hypertrophy- MedGen UID:
- 853739
- •Concept ID:
- C2265792
- •
- Finding
Abnormal increase in muscle size and mass not due to training.
EMG: myotonic discharges- MedGen UID:
- 867779
- •Concept ID:
- C4022169
- •
- Finding
High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.
Malignant hyperthermia of anesthesia- MedGen UID:
- 9867
- •Concept ID:
- C0024591
- •
- Injury or Poisoning
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom