10 Other Movement Disorders Flashcards
Hallmark sign of Hungtington’s Disease
Atrophy of the striatum that later involves cerebral cortex and subcortical structures
Severe loss of neurons in caudate and putamen
CAG repeats
28 or less = norma
29-34 = next generation at risk for HD
35-39 = possible development of HD
40 or more = definite HD
Preclinical HD
Mild cog impairment in executive function, attention, memory, emotional processing
Depression and irritability
Early HD
Difficulty thinking through complex tasks
Depression, irritability, hypersexuality, disinhibition
Involuntary twitching in extremities, subtle coordination loss
Middle stage HD
Min to mod assist
Difficulty swallowing
Staggering gait
Difficulty organizing and thinking clearly
More apathetic
Notable chorea, difficulty with voluntary tasks
HD Basal ganglia pathophysiology
Indirect pathway affected before direct pathway
Disruption of indirect = hyperkinesia (chorea) in early to mid stages caused by loss of enkephalin-containing neurons in striatum
Disruption of direct = hypokinesia in late stages caused by loss of substace-P containing neurons in striatum
Striatum GABAergic projection neurons
Enkephalin-containing = indirect pathway
Substance P-containing = direct pathway
Late stage HD
Requires max A, bedridden, may require feeding tube
Cog significantly impaired, can usually recognize loved ones
High apathy, decreased depression, 3-11% psychosis
Decreased chorea, rigidity, dystonia, bradykinesia
HD diagnosis
PET and functional MRI show changes in brain prior to symptoms
MRI and CT in late disease show decreased striatal volume
Only 5% of at-risk seek testing
Cause of death in HD
Pneumonia
Heart failure
Infection
Other complications
Meds for HD abnormal movements
Tetrabenazine- suppress chorea
Other meds intended to treat PD, epilepsy, panic/psychotic disorders but side effect of suppressing movement
Essential tremor definition
Condition of nervous system characterized by involuntary and rhythmic shaking
Theories of ET pathology
Cerebellar degeneration with loss and swelling of Purkinje cells
Inherited axonal factor that alters synaptic density in cerebellum and causes abnormal contraction
ET etiology
Most common movement disorder
Children 50% chance of inheriting ET if parent diagnosed
Non-genetic causes of ET
Degenerative Metabolic Peripheral neuropathies Toxins Drug-induced Psychogenic disorders
Clinical presentation of ET
Action-postural tremor that resolves during sleep
May be asymmetrical
Intermittent initially, may be persistent with time
Frequency fixed, amplitude increases
Increases with stress, exercise, fatigue, caffeine, meds
Does not usually affect gait
Hands 90%, head 41%, voice 17%, legs 14%
Med management of ET
Beta blockers Anti-seizure meds Tranquilizers Botox injections Anti-psychotics Antidepressants DBS
Dystonia pathology
Unknown Genetic mutation Degeneration and loss of brainstem nuclei BG lesions Cerebellar pathology Abnormal neuroplasticity
Clinical presentation of dystonia
Involuntary muscle contractions that cause slow repetitive movements or abnormal postures
Focal dystonia
Most common is torticollis
Task-specific dystonia
Writer’s cramp
Musician’s dystonia
Dystonia involving multiple body parts
Generalized Myoclonus Paroxysmal Dopa responsive Hemidystonia
Acquired dystonia
Drug-induced (tardive) Dystonic CP PD Metabolic disorders Brain injury or damage
Functional dystonia
Also known as fixed dystonia
Prognosis of dystonia
Usually stabilizes in 3-5 years after onset, subtle changes with environment, stress, etc.
Med management of dystonia
Dopaminergics Anticholinergics GABA agonists Anti-convulsants Botox injection DBS
