From HPO
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.
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.
Perseverative thought- MedGen UID:
- 66686
- •Concept ID:
- C0233651
- •
- Mental or Behavioral Dysfunction
Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.
Clumsiness- MedGen UID:
- 66690
- •Concept ID:
- C0233844
- •
- Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Dysmetria- MedGen UID:
- 68583
- •Concept ID:
- C0234162
- •
- Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Dysdiadochokinesis- MedGen UID:
- 115975
- •Concept ID:
- C0234979
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Positive Romberg sign- MedGen UID:
- 66017
- •Concept ID:
- C0240914
- •
- Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Progressive cerebellar ataxia- MedGen UID:
- 140727
- •Concept ID:
- C0393525
- •
- Disease or Syndrome
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Short term memory impairment- MedGen UID:
- 675230
- •Concept ID:
- C0701811
- •
- Mental or Behavioral Dysfunction
A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Impaired proprioception- MedGen UID:
- 346424
- •Concept ID:
- C1856691
- •
- Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Delayed somatosensory central conduction time- MedGen UID:
- 867773
- •Concept ID:
- C4022163
- •
- Pathologic Function
An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).
Tendon xanthomatosis- MedGen UID:
- 450999
- •Concept ID:
- C0221253
- •
- Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Hypercholesterolemia- MedGen UID:
- 5687
- •Concept ID:
- C0020443
- •
- Disease or Syndrome
An increased concentration of cholesterol in the blood.
Decreased circulating vitamin E concentration- MedGen UID:
- 21881
- •Concept ID:
- C0042875
- •
- Disease or Syndrome
A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.
Increased LDL cholesterol concentration- MedGen UID:
- 154289
- •Concept ID:
- C0549399
- •
- Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Xanthelasma- MedGen UID:
- 56357
- •Concept ID:
- C0155210
- •
- Disease or Syndrome
The presence of xanthomata in the skin of the eyelid.
- Abnormality of metabolism/homeostasis
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system