From HPO
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.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Sleep apnea- MedGen UID:
- 11458
- •Concept ID:
- C0037315
- •
- Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
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.
Fatigable weakness- MedGen UID:
- 451076
- •Concept ID:
- C0947912
- •
- Disease or Syndrome
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Easy fatigability- MedGen UID:
- 373253
- •Concept ID:
- C1837098
- •
- Finding
Increased susceptibility to fatigue.
Hyperlordosis- MedGen UID:
- 9805
- •Concept ID:
- C0024003
- •
- Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
Neck muscle weakness- MedGen UID:
- 66808
- •Concept ID:
- C0240479
- •
- Finding
Decreased strength of the neck musculature.
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.
Weakness of facial musculature- MedGen UID:
- 98103
- •Concept ID:
- C0427055
- •
- Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
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.
Distal lower limb amyotrophy- MedGen UID:
- 324515
- •Concept ID:
- C1836451
- •
- Disease or Syndrome
Muscular atrophy of distal leg 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).
Proximal muscle weakness in upper limbs- MedGen UID:
- 356424
- •Concept ID:
- C1866012
- •
- Finding
A lack of strength of the proximal muscles of the arms.
Neonatal hypotonia- MedGen UID:
- 412209
- •Concept ID:
- C2267233
- •
- Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation- MedGen UID:
- 892749
- •Concept ID:
- C4021728
- •
- Finding
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Anti-muscle-specific tyrosine kinase antibody- MedGen UID:
- 866697
- •Concept ID:
- C4021044
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).
Anti-acetylcholine receptor antibody positivity- MedGen UID:
- 868186
- •Concept ID:
- C4022578
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.
Hypernasal speech- MedGen UID:
- 99115
- •Concept ID:
- C0454555
- •
- 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.
Tongue atrophy- MedGen UID:
- 66828
- •Concept ID:
- C0241423
- •
- Finding
Wasting of the tongue.
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).
Ophthalmoplegia- MedGen UID:
- 45205
- •Concept ID:
- C0029089
- •
- Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Upgaze palsy- MedGen UID:
- 1369853
- •Concept ID:
- C4476705
- •
- Disease or Syndrome
A limitation of the ability to direct one's gaze above the horizontal meridian.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice