# characteristics.description[].text
Clinically affected;delivered at term and weighed 5 pounds 13 ounces;placed on respirator at 5 days of age;hypotonia in infancy;problems with articulation of language;diagnosed at age 4;long;thin face with weakness of the facial musculature;myotonic facies;incomplete eyelid closure;high-arched palate;thin extremitites with relatively reduced muscle bulk;mildly reduced strength in neck flexion and distal upper extremity musculature;myotonia evident with hand grip and after thenar percussion;distal atrophy of arms and legs;affected mother is GM04608;affected sister is GM04602;maternal grandfather is GM06076;myotonia on EMG

# characteristics.title[].text
GM04601 female affected Dystrophia myotonica 1 sample