From HPO
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Poor suck- MedGen UID:
- 324693
- •Concept ID:
- C1837142
- •
- Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Easy fatigability- MedGen UID:
- 373253
- •Concept ID:
- C1837098
- •
- Finding
Increased susceptibility to fatigue.
Decreased miniature endplate potentials- MedGen UID:
- 381306
- •Concept ID:
- C1853952
- •
- Finding
An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Bulbar palsy- MedGen UID:
- 898626
- •Concept ID:
- C4082299
- •
- Disease or Syndrome
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
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.
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.
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.
Type 2 muscle fiber atrophy- MedGen UID:
- 355249
- •Concept ID:
- C1864580
- •
- Pathologic Function
Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
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.
Arthrogryposis multiplex congenita- MedGen UID:
- 1830310
- •Concept ID:
- C5779613
- •
- Disease or Syndrome
Multiple congenital contractures in different body areas.
Respiratory insufficiency due to muscle weakness- MedGen UID:
- 812797
- •Concept ID:
- C3806467
- •
- Finding
Anti-acetylcholine receptor antibody positivity- MedGen UID:
- 868186
- •Concept ID:
- C4022578
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
Weak cry- MedGen UID:
- 65892
- •Concept ID:
- C0234860
- •
- Finding
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
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).
Ophthalmoparesis- MedGen UID:
- 155551
- •Concept ID:
- C0751401
- •
- Sign or Symptom
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
- 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
- Ear malformation