An infant present with hypotonia and hyporeflexia with significant prenatal history of polyhydraminos and decreased fetal movements. What do you suspect?
Among the given options, only spinal muscular atrophy presents in infancy and the rest in late childhood. Spinal Muscular atrophy (SMA) It is a degenerative disease of motor neurons, caused by the mutation of SMN gene with autosomal-recessive inheritance. Clinical features: Usually stas in infancy with hypotonia, hyporeflexia, and thin muscle mass Diagnosis: Genetic testing for SMN gene mutation. Muscle biopsy for cases of negative genetic testing. Treatment: Symptomatic and suppoive Ref: nelson textbook of pediatrics 21st edition Pgno: 3246
Spinal muscular atrophy
Classical myotonic dystrophy
Duchenne muscular dystrophy
Emery-Dreifuss syndrome
Musculoskeletal  disorders