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STEP
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
3 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
Parkinson's Drugs
Parkinsons Characteristics
Decreased Dopamine
Increased Acetylcholine
Drug Names
BALSA Acronym
Bromocriptine
Amantadine
Levodopa
Selegiline
Antimuscarinics
2 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 Interventions
Diagnostic Tests
PET Scan and CT
Mini-Mental State Examination
Interventions
Drug Therapy
Safe Environment
Moderate Exercise
Behavioral Modification
Assistance with Functional Independence
Assistance and Support for Caregiver
2 mins
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
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
5 A's of Alzheimer's Disease
Agnosia
Anomia
Aphasia
Apraxia
Amnesia
1 min
Kawasaki Disease
Pathophysiology
Prevalent in Asian Children
Necrotizing Vasculitis
Signs and Symptoms
Fever
Strawberry-Red Tongue and Mucosa
Lymphadenopathy
Desquamative Skin Rash
Erythema and Edema of the Hands and Feet
Conjunctivitis
Coronary Aneurysm
Treatment
Intravenous Immunoglobulin (IVIG)
Aspirin
2 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
2 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
2 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
2 mins
Cori Disease
Pathophysiology
Type III Glycogen Storage Disease
Deficiency of Alpha 1, 6 Glucosidase
Debranching Enzyme
Limit-Dextrin Accumulation (In Cytosolic Structures)
Signs and Symptoms
Hypoglycemia
Muscle Weakness
Hypotonia
Stunted Growth
Hepatomegaly
Diagnosis
Normal Blood Lactic Acid Levels
Gluconeogenesis Intact
Increased LFT's
Increased Creatine Kinase (CK/CPK)
Treatment
Continuous Feeding
High Protein Diet
Cornstarch (Uncooked)
4 mins
Vitamin B6 (Pyridoxine)
Pyridoxal Phosphate
Mechanism
Transamination
Decarboxylation
Glycogen Phosphorylase
Cystathionine Synthase
Functions
Heme Synthesis
Niacin Synthesis
Neurotransmitter Synthesis
2 mins
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
2 mins
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
1 min
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
2 mins
Hemochromatosis Pathophysiology
Pathophysiology
Hemosiderin Deposition
Autosomal Recessive
HLA-A3
Secondary to Transfusion Therapy
Increase Iron
Increase Ferritin
Increased Transferrin Saturation
2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
1 min
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