From HPO
Lower limb pain- MedGen UID:
- 6033
- •Concept ID:
- C0023222
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Cerebellar vermis atrophy- MedGen UID:
- 149271
- •Concept ID:
- C0742028
- •
- Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Limb ataxia- MedGen UID:
- 196692
- •Concept ID:
- C0750937
- •
- Finding
A kind of ataxia that affects movements of the extremities.
Palmomental reflex- MedGen UID:
- 155866
- •Concept ID:
- C0751470
- •
- Finding
A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.
Gait ataxia- MedGen UID:
- 155642
- •Concept ID:
- C0751837
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Sensorimotor neuropathy- MedGen UID:
- 207266
- •Concept ID:
- C1112256
- •
- Disease or Syndrome
Postural instability- MedGen UID:
- 334529
- •Concept ID:
- C1843921
- •
- Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Rigidity- MedGen UID:
- 7752
- •Concept ID:
- C0026837
- •
- Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypometric saccades- MedGen UID:
- 98065
- •Concept ID:
- C0423082
- •
- Finding
Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom