From HPO
Ankle clonus- MedGen UID:
- 68672
- •Concept ID:
- C0238651
- •
- Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Unsteady gait- MedGen UID:
- 68544
- •Concept ID:
- C0231686
- •
- Finding
A shaky or wobbly manner of walking.
Steppage gait- MedGen UID:
- 98105
- •Concept ID:
- C0427149
- •
- Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Developmental regression- MedGen UID:
- 324613
- •Concept ID:
- C1836830
- •
- Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Craniofacial dystonia- MedGen UID:
- 868612
- •Concept ID:
- C4023011
- •
- Disease or Syndrome
A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
Hypertonia- MedGen UID:
- 10132
- •Concept ID:
- C0026826
- •
- Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
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.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Drooling- MedGen UID:
- 8484
- •Concept ID:
- C0013132
- •
- Finding
Habitual flow of saliva out of the mouth.
Excessive salivation- MedGen UID:
- 11419
- •Concept ID:
- C0037036
- •
- Disease or Syndrome
Excessive production of saliva.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system