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).
Myoclonus- MedGen UID:
- 10234
- •Concept ID:
- C0027066
- •
- Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Migraine- MedGen UID:
- 57451
- •Concept ID:
- C0149931
- •
- Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Cognitive impairment- MedGen UID:
- 90932
- •Concept ID:
- C0338656
- •
- Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Bilateral tonic-clonic seizure- MedGen UID:
- 141670
- •Concept ID:
- C0494475
- •
- Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
EEG with photoparoxysmal response- MedGen UID:
- 765735
- •Concept ID:
- C3552821
- •
- Finding
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
Enhancement of the C-reflex- MedGen UID:
- 765738
- •Concept ID:
- C3552824
- •
- Finding
Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
Jerk-locked premyoclonus spikes- MedGen UID:
- 765739
- •Concept ID:
- C3552825
- •
- Finding
Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Giant somatosensory evoked potentials- MedGen UID:
- 813291
- •Concept ID:
- C3806961
- •
- Finding
An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
EEG with irregular generalized spike and wave complexes- MedGen UID:
- 871304
- •Concept ID:
- C4025792
- •
- Finding
EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.
Blepharospasm- MedGen UID:
- 599
- •Concept ID:
- C0005747
- •
- Disease or Syndrome
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
- Abnormality of head or neck
- Abnormality of the nervous system