From HPO
Scapular winging- MedGen UID:
- 66822
- •Concept ID:
- C0240953
- •
- Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Shoulder girdle muscle weakness- MedGen UID:
- 96533
- •Concept ID:
- C0427063
- •
- Finding
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Pelvic girdle muscle weakness- MedGen UID:
- 96534
- •Concept ID:
- C0427064
- •
- Finding
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Calf muscle pseudohypertrophy- MedGen UID:
- 374276
- •Concept ID:
- C1839666
- •
- Finding
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Shoulder girdle muscle atrophy- MedGen UID:
- 339837
- •Concept ID:
- C1847766
- •
- Finding
Amyotrophy affecting the muscles of the shoulder girdle.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Falls- MedGen UID:
- 39084
- •Concept ID:
- C0085639
- •
- Finding
A sudden movement downward, usually resulting in injury.
Waddling gait- MedGen UID:
- 66667
- •Concept ID:
- C0231712
- •
- Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
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.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Difficulty running- MedGen UID:
- 108251
- •Concept ID:
- C0560346
- •
- Finding
Reduced ability to run.
Generalized muscle weakness- MedGen UID:
- 155433
- •Concept ID:
- C0746674
- •
- Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Generalized limb muscle atrophy- MedGen UID:
- 333018
- •Concept ID:
- C1838114
- •
- Disease or Syndrome
Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
Scapuloperoneal weakness- MedGen UID:
- 331234
- •Concept ID:
- C1842161
- •
- Finding
Scapuloperoneal amyotrophy- MedGen UID:
- 331235
- •Concept ID:
- C1842162
- •
- Finding
Muscular atrophy in the distribution of shoulder girdle and peroneal 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).
Neck flexor weakness- MedGen UID:
- 334801
- •Concept ID:
- C1843637
- •
- Finding
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
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).
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.
Reduced vital capacity- MedGen UID:
- 141657
- •Concept ID:
- C0476408
- •
- Finding
An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.
Mildly elevated creatine kinase- MedGen UID:
- 342469
- •Concept ID:
- C1850309
- •
- Finding
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system