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First Aid for the USMLE Step 1 (2021)
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First Aid for the USMLE Step 1 (2021) | Physician Assistant (PA) School Study Aid

Page 62 -
5 Picmonics to Learn | 13 mins
Rett Syndrome
Pathogenesis
Sporadic Neurological Disorder
De Novo Mutation of MECP2 on X Chromosome
RISK FACTORS & SYMPTOMS
Seen Almost Exclusively In Girls
Affected Males Die in Utero or Shortly After Birth
Symptoms Usually Appear Between Ages 1-4
Developmental Regression
Motor Impairment
Intellectual Disability (Mental Retardation)
Loss of Verbal Abilities
Seizure
Stereotyped Hand Wringing
Decelerated Head Growth (Microcephaly)
Breathing Problems
Ataxia
picmonic thumbnail
5 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
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2 mins
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
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3 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
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2 mins
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
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1 min

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