A  CASE  OF MYOPATHY

Mrs. K.M  32 years old, suffer from myopathy two years ago. Her hereditary history it's free. Her disease started from thage of fourth, with easy fatigue, which perceived after the age of twelve years when the patient understand that she couldn't do the difficult exercises of gymnastic and later the less difficult. A particularly difficulty was to get up from sitting position. In the age of eighteen and after  her childbirth she observed a big aggravation of muscle weakness. She found most difficulty walking up the stairs, caring her hair. Her situation since then remain the same.
From the objective examination found out the followings: 
Moderate muscular atrophy and weakness of scapular and pelvic zone.
The muscle of the face and the nuke are normal.
Calf, quadriceps and deltoid muscle are pseudohypertrophic, with reduction of muscular force.
The reflections of tendons of the biceps are abolished both of sides, but the reflections of tendons of the triceps and the reflections of the legs are weak.
She doesn't appears sensorial disturbances.

Laboratory exams:
Blood exams, exams of urine, urea, glucose of blood, creatinine, all are normal.
CPK (1988) = 1.088 UI
CPK (1990) = 2.366 UI
Aldolase = 21,0 UI
Check up of collagen: negative.
EMG: The findings are agree with a myopathic disturb of  genetical transmittion, recessive autosomic (chromosome 13).