# characteristics.description[].text
Clinically affected;diagnosed shortly after birith;delivered prematurely (breech) and weighed 5 pounds 9 ounces;vigorous resuscitation required and on respirator for approximately three months after birth;hypotonia at birth;scoliosis developed at approximately 4 months of age and required body brace;by age 2 there was delay in communication skills;inability to sit without support;delayed fine motor adaptive skills;difficulty maintaining head control;delayed milestones;high-arched palate;thin;long face with moderate facial weakness;inability to completely close eyelids;thin;elongated head;hypertelorism;little facial movement;bilateral nonobligatory tonic neck responses;reduced muscle tone and reduced muscle bulk in all extremities;clinical and electrical myotonia;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene;affected mother is GM04608;affected sister is GM04601;maternal grandfather is GM06076;see GM06077 lymphocyte

# characteristics.title[].text
GM04602 female affected Dystrophia myotonica 1 sample