32 terms in neurology
Brief generalized nonconvulsive seizures (formerly petit mal) characterized by sudden staring and unresponsiveness for ~10 seconds with imme…
Benign Schwann cell tumor of the vestibulocochlear nerve (CN VIII), usually at the cerebellopontine angle; causes progressive unilateral hea…
Progressive degenerative motor neuron disease affecting upper and lower motor neurons, leading to muscle weakness, atrophy, and ultimately r…
Anencephaly is a neural tube defect where the rostral neuropore fails to close, resulting in absence of the fetal forebrain (cerebrum/cerebe…
A group of permanent movement and posture disorders caused by non-progressive injury to the developing brain (usually prenatal or perinatal)…
Congenital hindbrain malformation where the cerebellar tonsils herniate downward through the foramen magnum (typically >5 mm descent).
A congenital hindbrain malformation with caudal displacement of the cerebellar vermis/tonsils, brainstem, and fourth ventricle through the f…
Chronic cognitive syndrome marked by progressive decline in one or more cognitive domains (memory, language, executive function, etc.) sever…
Weakness or paralysis of the facial muscles due to dysfunction of CN VII (facial nerve); peripheral lesions (e.g., Bell's palsy) cause ipsil…
Progressive optic neuropathy, usually from elevated intraocular pressure (IOP), leading to characteristic visual field loss and potentially …
Holoprosencephaly (HPE) is a congenital forebrain malformation where the embryonic prosencephalon fails to divide into two separate hemisphe…
Injury of the lower brachial plexus (C8-T1 roots) causing paralysis of intrinsic hand muscles ('claw hand') and sensory loss in the medial a…
Autoimmune disorder of the neuromuscular junction (presynaptic) where antibodies target voltage-gated calcium channels, reducing acetylcholi…
Severe childhood-onset epileptic encephalopathy with multiple refractory seizures, cognitive impairment, and a characteristic slow (<3 Hz) s…
A common mood disorder characterized by at least two weeks of pervasive depressed mood and/or loss of interest (anhedonia), accompanied by s…
Meniere disease (idiopathic endolymphatic hydrops) is an inner ear disorder caused by excess endolymphatic fluid pressure in the cochlea and…
Meningocele is a congenital neural tube defect (spina bifida) in which only the meninges (with CSF) herniate through a vertebral arch defect…
Autoimmune demyelinating disease of the CNS causing episodes of neurologic dysfunction separated in time and space; pathologically marked by…
Autoimmune neuromuscular junction disorder characterized by fatigable skeletal muscle weakness (worsens with activity, improves with rest) d…
Autosomal dominant muscular dystrophies (DM1 & DM2) caused by unstable repeat expansions; defined by progressive muscle weakness (distal in …
Involuntary, rhythmic oscillation of the eyes (rapid jerking or drifting movements) typically caused by an imbalance in vestibular input or …
A benign childhood focal epilepsy (also called early-onset occipital epilepsy) characterized by seizures with prominent autonomic symptoms (…
Progressive neurodegenerative movement disorder caused by loss of dopaminergic neurons in the substantia nigra, leading to the classic triad…
Transient episodes of abnormal, excessive, synchronous neuronal activity in the brain, often causing altered awareness, involuntary movement…
Mildest form of spina bifida (a neural tube defect) where the bony vertebral arches fail to fuse, leaving a "hidden" gap. It results from in…
Group of autosomal recessive motor neuron disorders (SMN1 gene deletion on 5q) causing degeneration of anterior horn cells and progressive s…
Misalignment of the eyes such that they do not properly align on the same target. In other words, one eye may point in a different direction…
Acute loss of brain function due to disrupted blood flow—usually from an arterial blockage (ischemic stroke, ~85% of cases) or a ruptured ve…
Bleeding into the subarachnoid space (between the arachnoid and pia mater), usually due to a ruptured saccular ("berry") aneurysm.
Transient loss of consciousness ("fainting") caused by global cerebral hypoperfusion, typically with rapid onset, brief duration, and sponta…
Injury or compression of the ulnar nerve (C8–T1) often at the elbow (cubital tunnel) or wrist (Guyon's canal), causing impaired hand intrins…
Acute inflammation of the vestibular (balance) portion of CN VIII causing sudden, prolonged vertigo with nausea and imbalance. Hearing is us…