From HPO
Exercise intolerance- MedGen UID:
- 603270
- •Concept ID:
- C0424551
- •
- Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Exercise-induced myalgia- MedGen UID:
- 340638
- •Concept ID:
- C1850830
- •
- Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Hereditary myoglobinuria- MedGen UID:
- 44557
- •Concept ID:
- C0027080
- •
- Finding
Presence of myoglobin in the urine.
Distal upper limb muscle weakness- MedGen UID:
- 461970
- •Concept ID:
- C3150620
- •
- Finding
Reduced strength of the distal musculature of the arms.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Rhabdomyolysis- MedGen UID:
- 19775
- •Concept ID:
- C0035410
- •
- Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Progressive proximal muscle weakness- MedGen UID:
- 322841
- •Concept ID:
- C1836156
- •
- Finding
Lack of strength of the proximal muscles that becomes progressively more severe.
Centrally nucleated skeletal muscle fibers- MedGen UID:
- 330782
- •Concept ID:
- C1842170
- •
- Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Increased variability in muscle fiber diameter- MedGen UID:
- 336019
- •Concept ID:
- C1843700
- •
- Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Muscle fiber necrosis- MedGen UID:
- 376893
- •Concept ID:
- C1850848
- •
- Pathologic Function
Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
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.
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Increased endomysial connective tissue- MedGen UID:
- 867771
- •Concept ID:
- C4022161
- •
- Finding
An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom