Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Physical development during the prenatal period and early childhood follows two major directional principles: cephalocaudal and proximodistal development. These general patterns happen simultaneously and help explain changes in body proportions and the gradual development of motor skills.Cephalocaudal DevelopmentThe cephalocaudal principle describes development from the head downward toward the lower body. During prenatal development, the head and brain structures develop rapidly before many...