Movement. disorders Flashcards
Huntington disease is an _______ progressive ________ disorder.
inherited
neurodegenerative
huntington is caused by what.
expansion of the CAG trinucleotide in the Huntington gene
huntington clinical feat:
Chorea – rapid involuntary dance-like movements involving the face, trunk, and/or limbs.
Motor impersistence, hypotonia + hyperreflexia, dystonia, bradykinesia.
Abnormal eye movements
Psychiatric symptoms – could manifest as irritability, depression, disrupted social relations. These can occur several years before the onset of chorea
Dementia – cognitive decline is inevitable. Dominant cognitive feature is executive dysfunction
Weight loss + cachexia
huntington mri
caudate atrophy
parkinsons:
Resting tremor Bradykinesia Rigidity Shuffling gait Postural Instability Autonomic disturbances: hypotension, constipation, gastroparesis, erectile dysfunction Hypomimia Hypophonia Dysphagia Stooped posture Micrographia Sleep dysfunction Cognitive impairment/dementia Olfactory dysfunction
parkinsons patho:
Progressive loss of dopaminergic neurons of the substantia nigra
what might surviving substantial nigra from Parkinson’s contain?
lewy bodies
hallmark feat of Parkinson’s:
- Degeneration of dopaminergic neurons in the substantia nigra
- Intracytoplasmic proteinaceous inclusions known as Lewy bodies that primarily contain alpha synuclein
most common movement disorder in the US
Essential tremor
essential tremor:
Characterized by high frequency tremor (6-10 Hz) that predominantly affects the upper extremities
Most often manifests as a postural or action (kinetic) tremor
Typically bilateral and symmetric but may begin on one side and remain asymmetric
Restless Leg Syndrome 4 core symptoms:
An urge to move legs which is usually caused or accompanied by an unpleasant sensation in the leg
Symptoms that begin or worsen with rest
Partial or complete relief by movement
Worsening during the evening or night
unpleasant sensation of RLS:
creepy-crawly feeling, paresthesia, or burning.
primary RLS:
genetic and several loci have been found with an AD pattern of inheritance, though penetrance is variable. Mean age of onset is at 27 years old
secondary RLS:
may be associated with pregnancy or a range of disorders including: anemia, ferritin deficiency, renal failure, and peripheral neuropathy
Dystonia:
movement disorder characterized by involuntary sustained or intermittent muscle contractions resulting in abnormal postures and/or repetitive movements.
