From HPO
Distal lower limb muscle weakness- MedGen UID:
- 324514
- •Concept ID:
- C1836450
- •
- Finding
Reduced strength of the distal musculature of the legs.
Muscle fibrillation- MedGen UID:
- 65418
- •Concept ID:
- C0231531
- •
- Finding
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Easy fatigability- MedGen UID:
- 373253
- •Concept ID:
- C1837098
- •
- Finding
Increased susceptibility to fatigue.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hyperlordosis- MedGen UID:
- 9805
- •Concept ID:
- C0024003
- •
- Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
EMG: positive sharp waves- MedGen UID:
- 607215
- •Concept ID:
- C0429349
- •
- Finding
These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.
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).
Proximal amyotrophy- MedGen UID:
- 342591
- •Concept ID:
- C1850794
- •
- Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
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).
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Proximal muscle weakness in upper limbs- MedGen UID:
- 356424
- •Concept ID:
- C1866012
- •
- Finding
A lack of strength of the proximal muscles of the arms.
Proximal upper limb amyotrophy- MedGen UID:
- 356138
- •Concept ID:
- C1866013
- •
- Finding
Muscular atrophy affecting proximally located muscles of the arms.
Skeletal muscle hypertrophy- MedGen UID:
- 853739
- •Concept ID:
- C2265792
- •
- Finding
Abnormal increase in muscle size and mass not due to training.
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.
EMG: myotonic discharges- MedGen UID:
- 867779
- •Concept ID:
- C4022169
- •
- Finding
High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.
Mildly elevated creatine kinase- MedGen UID:
- 342469
- •Concept ID:
- C1850309
- •
- Finding
Sleepy facial expression- MedGen UID:
- 870757
- •Concept ID:
- C4025214
- •
- Finding
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
External ophthalmoplegia- MedGen UID:
- 57662
- •Concept ID:
- C0162292
- •
- Disease or Syndrome
Paralysis of the external ocular muscles.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system