9-month-old: Delayed sitting
B did not sit independently until 9 months of age. Because of delayed sitting, she was referred for developmental stimulation through Early Access and was making steady progress. She began walking between 17 and 18 months, but family was concerned her “feet rolled in” when she walked. Her language skills were normal for age. The PCP asked the parents about the family history.
B’s father was diagnosed with Charcot-Marie-Tooth disease type 1A, which he inherited from his father. Two of his brothers also had Charcot-Marie-Tooth disease.
B was referred to a neuromuscular specialist for evaluation, and the diagnosis of CMT type 1A was confirmed. After the diagnosis, B continued to get physical therapy and was fitted for ankle-foot orthoses. She made steady developmental progress and her parents adjusted reasonably well to her diagnosis, although her father felt confused and guilty about passing along “the family disorder” to his daughter. He had believed that this condition would affect only males. The neurologist made a referral for genetic counseling and continued to be a resource for the family.