Pseudo-hypertrophic muscular dystrophy in 1 case.docVIP

Pseudo-hypertrophic muscular dystrophy in 1 case Of: Jiang Li, Xiao-Bing Chen, Chao, Li Yumei, Zhang Zhi [Keywords:] pseudo-hypertrophic muscular dystrophy, baby, genetic disease Pseudo-hypertrophic muscular dystrophy, also known as Duchenne muscular dystrophy (DMD, is an X-linked recessive genetic diseases, more performance for the progressive increase of muscle atrophy and weakness, early onset, rapid progression and poor prognosis , is a rare disease, onset in infancy little more in the beginning before the age of 5 to 6 disease [1]. I Division 1 patient 1 year old baby admitted, are as follows. A medical record Children male, 1 year old, because of “weakness 4 more than a month” for treatment. Children in the 4 months before admission, the parents found weakening of activity in both upper limbs, the extract can Raise your hands can not be too gradual to the shoulder, will not be prone position rise, will not sit, not stand, will not stand to recognize people, looking to move with the sound. then to a hospital for treatment, investigation head CT showed “cerebral dysplasia”, a diagnosis of “cerebral dysplasia.” give “ Shen Jie, ““ muscular amino acids and nucleosides “3 course of treatment, poor efficacy, admission examination: T 36.3 ℃, P 110 times / min, R 28 times / min, BP 80/50 mm Hg, W 10 kg. normal development, nutrition, moderate, conscious, energetic, reaction, respiratory smooth, ruddy. head no deformity, before the skull 0.5 cm, soft, head circumference 40 cm, eyes, freedom of movement, bilateral and other large and round pupils, light reflex sensitivity, soft neck, heart and lung abdomen negative. Children can recover property marking will laugh, both hands to hold things, can be called “dad” and “mother” and other simple words, not sitting alone, will not stand, do not will stand. neurological examination: decreased muscle tone limbs, upper limbs Ⅲ, Ⅱ grade lower extremity muscle strength, pain, touch, normal, normal abdominal reflex,