From HPO
Fatigue- MedGen UID:
- 41971
- •Concept ID:
- C0015672
- •
- Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Shoulder girdle muscle atrophy- MedGen UID:
- 339837
- •Concept ID:
- C1847766
- •
- Finding
Amyotrophy affecting the muscles of the shoulder girdle.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Overweight- MedGen UID:
- 105424
- •Concept ID:
- C0497406
- •
- Finding
Increased body weight with a body mass index of 25-29.9 kg per square meter.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Gowers sign- MedGen UID:
- 65865
- •Concept ID:
- C0234182
- •
- Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Generalized amyotrophy- MedGen UID:
- 234650
- •Concept ID:
- C1389113
- •
- Disease or Syndrome
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple 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).
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.
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).
Z-band streaming- MedGen UID:
- 480908
- •Concept ID:
- C3279278
- •
- Finding
Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.
EMG: myopathic abnormalities- MedGen UID:
- 867362
- •Concept ID:
- C4021726
- •
- Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Muscle fiber granulofilamentous inclusion bodies- MedGen UID:
- 1842077
- •Concept ID:
- C5826545
- •
- Finding
The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.
Reduced forced vital capacity- MedGen UID:
- 337630
- •Concept ID:
- C1846678
- •
- Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Hypernasal speech- MedGen UID:
- 107884
- •Concept ID:
- C0566620
- •
- Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Abnormality of the voice
- Constitutional symptom
- Growth abnormality