5 results
Gowers' Sign on Physical Exam

Seen in this patient with Duchenne muscular dystrophy (DMD)

#Gowers #Sign #PhysicalExam #neurology
Gowers' Sign on ... muscular dystrophy ... PhysicalExam #neurology #clinical ... #video #pediatrics ... #DMD #Duchenne
Gowers' Sign on Physical Exam

Indicative of proximal muscle weakness in muscular dystrophy.

#Gowers #Sign #PhysicalExam #neurology #clinical
Gowers' Sign on ... #neurology #clinical ... #video #pediatrics ... #muscular #dystrophy ... #DMD #Duchenne
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... Unique or multiple ischemic ... Workup #Diagnosis #Geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds #pediatrics