From HPO
Areflexia of lower limbs- MedGen UID:
- 347285
- •Concept ID:
- C1856694
- •
- Finding
Inability to elicit tendon reflexes in the lower limbs.
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.
Hand tremor- MedGen UID:
- 68689
- •Concept ID:
- C0239842
- •
- Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Degeneration of anterior horn cells- MedGen UID:
- 375215
- •Concept ID:
- C1843505
- •
- Finding
Spinal muscular atrophy- MedGen UID:
- 7755
- •Concept ID:
- C0026847
- •
- Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
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.
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.
Proximal amyotrophy- MedGen UID:
- 342591
- •Concept ID:
- C1850794
- •
- Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
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.
Rimmed vacuoles- MedGen UID:
- 340089
- •Concept ID:
- C1853932
- •
- Finding
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
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: neuropathic changes- MedGen UID:
- 867363
- •Concept ID:
- C4021727
- •
- Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Quadriceps muscle atrophy- MedGen UID:
- 870170
- •Concept ID:
- C4024603
- •
- Pathologic Function
Muscular atrophy involving the quadriceps muscle.
Angulated muscle fibers- MedGen UID:
- 1699728
- •Concept ID:
- C5233187
- •
- Finding
Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.
Tongue fasciculations- MedGen UID:
- 65987
- •Concept ID:
- C0239548
- •
- Finding
Fasciculations or fibrillation affecting the tongue muscle.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system