Abstract
We described a sporadic female case with congenital muscular dystrophy (CMD).
The disease started between four and eight months of age and progressed slowly. She was unable to roll over till 7 months old, and could not creep or stand up without support in infancy. She began to walk at 13 months of age, kept waddling and never ran. In addition, facial muscle involvement became evident and joint contractures developed in the course of 4 years.
She had muscle weakness predominant at the pelvic girdle, slight hypotonia and absent patellar tendon reflexes. Pseudohypertrophyw as noted in the four limbs, b ut prominenti n the calves. The Tanaka-Binet test gave an IQ of about 70. The serum creatine phosphokinase was about 20 times higher than the normal upper limit and electromyographys howed a myogenicp attern. A muscle biopsyr evealed pathologicalc hanges of progressive muscular dystrophy. The karyotype was that of a normal female with 46 XX.
Clinical features of this patient were similar to those of the patient with atypical Fukuyama type CMD (FCMD) s, ubtype N describedb y Fukuyama et al. in 1981.S ince this case showed more mild involvemento f intelligence, e arly ambulation, m ore localizedd istribution of pseudohypertrophya nd pelvic girdle predominance in weakness, we consider that this case might be a variant form of subtype N of FCMD
