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Nervous Final
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Amyotrophic Lateral Sclerosis (ALS)
Assessment
Progressive Muscle Weakness
Systemic Muscle Wasting
Fasciculations
Spasticity
Fatigue
Considerations
Riluzole (Rilutek)
Stretching
Little to No Cognitive Decline
Respiratory Support
Palliative Care
2 mins
Type I Spinal Muscular Atrophy
Pathophysiology
Lower Motor Neuron Disease
SMN1 Mutation
Degeneration of Anterior Horn Cells
Autosomal Recessive
Clinical Features
Symmetric Flaccid Paralysis
Hypotonia
Bulbar Palsy
Extraocular Muscle Sparing
Respiratory Failure
Diagnosis
Genetic Testing
Treatment
Supportive Therapy
Nusinersen
3 mins
Parkinson's Disease Interventions
Medications
Levodopa/Carbidopa (Sinemet)
Entacapone (Comtan)
Selegiline (Eldepryl)
Amantadine (Symmetrel)
Bromocriptine (Parlodel)
Benztropine (Cogentin)
Considerations
Allow Extra Time
Ensure Patient Safety
Surgery As Last Resort
2 mins
Parkinson's Disease Assessment
Assessment
Decreased Dopamine
Older Adult
Cogwheel Rigidity
Bradykinesia
Shuffling Gait
Resting Tremor
Pill-Rolling
Mask-Like Face
Cognitive Decline
2 mins
Lewy Body Dementia
Pathophysiology
Unknown Etiology
Decreased Acetylcholine
Alpha-synuclein Defect
Eosinophilic Cytoplasmic Inclusion
Signs and Symptoms
Visual Hallucinations
Progressive Dementia
Fluctuating Cognition
REM Sleep Behavior Disorder
Parkinsonism
Treatment
Acetylcholinesterase Inhibitors
3 mins
Causes of Dementia
Reversible Causes
Intoxication or Medications
Depression
Normal Pressure Hydrocephalus
Vitamin B12 Deficiency
Metabolic Conditions
Irreversible Causes
Lewy Body Dementia
Prion Disease
Pick's Disease
AIDS Dementia
Alzheimer's Disease
Multi-infarct (Vascular) Dementia
2 mins
Alzheimer's Disease Assessment (Early Symptoms)
Risk Factors
Advanced Age
Early Signs and Symptoms
Poor Judgment and Decision-Making
Difficulty Having a Conversation
Inability to Manage a Budget
Losing Track of the Date or Season
Misplacing Things
1 min
Alzheimer's Disease Assessment (Late Symptoms)
Late Signs and Symptoms
Memory Impairment
Wandering Behavior
Confabulation
Perseveration
Lack of Abstract Thinking
Severe Cognitive Decline
1 min
5 A's of Alzheimer's Disease
Agnosia
Anomia
Aphasia
Apraxia
Amnesia
1 min
Multiple Sclerosis Features and Mechanisms
Features
More Common in Women
Presents in 20's and 30's
Northern Europeans
Mechanism
Unknown mechanism, genetic factor
HLA-DRB1
Autoimmune Demyelination of CNS
White Matter of Brain and Spinal Cord
T Cell Mediated Inflammation
2 mins
Multiple Sclerosis Symptoms and Diagnosis
Symptoms
Optic Neuritis
Internuclear Ophthalmoplegia
Scanning Speech
Urinary and Fecal Incontinence
Motor Issues (Intention Tremor, Paresis)
Numbness and Pain
Depression
Relapsing Symptoms
Diagnosis
Gold Standard = Plaques on MRI
Increased CSF Immunoglobulins (IgG)
Oligoclonal Bands
4 mins
Huntington's Disease Assessment and Interventions
Assessment
Decreased GABA
Appears around Age 40
Slow Cognitive Decline
Choreiform Movements
Non Repetitive Jerks
Interventions
Neuroleptics
Tetrabenazine
Genetic Counseling
Considerations
Stages of Disease
High Calorie Diet
2 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
2 mins
Ataxia Telangiectasia
Pathophysiology
Autosomal Recessive
ATM Gene
Defect in DNA repair
Signs & Symptoms
Cerebellar defects
Spider Angiomas
Sensitive to Radiation
Defective Tumor Suppressor Gene
Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
IgA deficiency
Repeated sinopulmonary infections
2 mins
Restless Legs Syndrome
Pathophysiology
Idiopathic
Iron Deficiency
Parkinson's Disease
Signs and Symptoms
Urge to Move the Legs
Unpleasant Sensations in Legs
Worsens with Inactivity
Relieved by Movement
Treatment
Iron Supplementation
Self-care
Gabapentin
Pramipexole
2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
2 mins
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
Charcot Marie Tooth Disease
Pathophysiology
Hereditary Motor Sensory Neuropathy
Autosomal Dominant
PMP22 Duplication
Schwann Cell Dysfunction
Clinical Features
Distal Muscle Weakness
Foot Drop
Calf Muscle Atrophy
Scoliosis
Hammertoes
Pes Cavus
Diagnosis
Onion-skin Appearance on Nerve Biopsy
Electrodiagnostic Studies
5 mins
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