From HPO
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
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.
Torticollis- MedGen UID:
- 11859
- •Concept ID:
- C0040485
- •
- Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Paroxysmal dystonia- MedGen UID:
- 97951
- •Concept ID:
- C0393588
- •
- Sign or Symptom
A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
Myokymia- MedGen UID:
- 146882
- •Concept ID:
- C0684219
- •
- Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Paroxysmal choreoathetosis- MedGen UID:
- 343687
- •Concept ID:
- C1851936
- •
- Disease or Syndrome
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Facial grimacing- MedGen UID:
- 65891
- •Concept ID:
- C0234853
- •
- Finding
Facial grimacing is characterized by a distorted, distressed look. The brow is more wrinkled, as is the area around the mouth. Eyes may be squeezed shut.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the nervous system