From HPO
Ankle flexion contracture- MedGen UID:
- 332440
- •Concept ID:
- C1837407
- •
- Anatomical Abnormality
Premature ventricular contraction- MedGen UID:
- 56236
- •Concept ID:
- C0151636
- •
- Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Joint contracture- MedGen UID:
- 3228
- •Concept ID:
- C0009918
- •
- Anatomical Abnormality
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Muscular dystrophy- MedGen UID:
- 44527
- •Concept ID:
- C0026850
- •
- Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Difficulty climbing stairs- MedGen UID:
- 68676
- •Concept ID:
- C0239067
- •
- Finding
Reduced ability to climb stairs.
Camptodactyly of finger- MedGen UID:
- 98041
- •Concept ID:
- C0409348
- •
- Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
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.
Interosseus muscle atrophy- MedGen UID:
- 339618
- •Concept ID:
- C1846829
- •
- Finding
Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.
Spinal rigidity- MedGen UID:
- 346721
- •Concept ID:
- C1858025
- •
- Finding
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
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.
Contracture of the distal interphalangeal joint of the fingers- MedGen UID:
- 869800
- •Concept ID:
- C4024230
- •
- Finding
Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.
Decreased forced expiratory flow 25-75%- MedGen UID:
- 1686759
- •Concept ID:
- C5139292
- •
- Finding
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
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.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system