From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Exercise-induced myalgia- MedGen UID:
- 340638
- •Concept ID:
- C1850830
- •
- Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Left ventricular diastolic dysfunction- MedGen UID:
- 696562
- •Concept ID:
- C1273070
- •
- Disease or Syndrome
Abnormal function of the left ventricule during left ventricular relaxation and filling.
Increased circulating troponin T concentration- MedGen UID:
- 1634809
- •Concept ID:
- C4703661
- •
- Finding
An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Reduced tendon reflexes- MedGen UID:
- 356648
- •Concept ID:
- C1866934
- •
- Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Brain imaging abnormality- MedGen UID:
- 751376
- •Concept ID:
- C2711610
- •
- Finding
An anomaly of metabolism or structure of the brain identified by imaging.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
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).
Calf muscle hypertrophy- MedGen UID:
- 335868
- •Concept ID:
- C1843057
- •
- Finding
Muscle hypertrophy affecting the calf muscles.
Axial muscle weakness- MedGen UID:
- 334472
- •Concept ID:
- C1843697
- •
- Finding
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Type 1 muscle fiber predominance- MedGen UID:
- 344274
- •Concept ID:
- C1854387
- •
- Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Proximal muscle weakness in upper limbs- MedGen UID:
- 356424
- •Concept ID:
- C1866012
- •
- Finding
A lack of strength of the proximal muscles of the arms.
Type 2 muscle fiber predominance- MedGen UID:
- 478817
- •Concept ID:
- C3277187
- •
- Finding
An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).
Upper limb amyotrophy- MedGen UID:
- 867165
- •Concept ID:
- C4021523
- •
- Disease or Syndrome
Muscular atrophy involving the muscles of the upper limbs.
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.
Reduced muscle fiber alpha dystroglycan- MedGen UID:
- 868254
- •Concept ID:
- C4022646
- •
- Finding
Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.
Lower limb amyotrophy- MedGen UID:
- 870475
- •Concept ID:
- C4024921
- •
- Finding
Muscular atrophy affecting the lower limb.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Respiratory insufficiency due to muscle weakness- MedGen UID:
- 812797
- •Concept ID:
- C3806467
- •
- Finding
Respiratory failure requiring assisted ventilation- MedGen UID:
- 870821
- •Concept ID:
- C4025279
- •
- Finding
A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
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 alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Increased intramyocellular lipid droplets- MedGen UID:
- 866481
- •Concept ID:
- C4020730
- •
- Finding
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.
Abnormal circulating creatine kinase concentration- MedGen UID:
- 868058
- •Concept ID:
- C4022449
- •
- Finding
Any deviation from the normal circulating creatine kinase concentration.
Abnormality of alkaline phosphatase level- MedGen UID:
- 892397
- •Concept ID:
- C4025328
- •
- Finding
An abnormality of alkaline phosphatase level.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom