Spastic paraplegia 25- autosomal recessive
Overview
Spastic paraplegia 25, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
Symptoms
Pyramidal symptoms in lower legs Lower leg weakness Spine disc herniation Spine pain
Causes
Normal variant Diastasis recti abdominis –Very common –Supraumbilical rectus muscles separated laterally Athyrotic hypothyroidism sequence –Primary defect in thyroid gland development –58% have associated umbilical hernias Omphalocele –Herniation of abdominal contents into umbilical cord, covered only by peritoneum not by skin –Often associated with genetic syndromes Gastroschisis –Intact umbilical cord –Evisceration of bowel through a defect in the abdominal wall, usually found on the right side of the cord without an overlying membrane Genetic syndromes –Beckwith-Wiedemann syndrome –Exomph alos-macroglossia-gigantism –May be associated with umbilical hernia or omphalocele –Pentalogy of Cantrell: Omphalocele, pericardial defect, sternal defect, cardiac defect (commonly tetralogy of Fallot), diaphragmatic hernia