History of patient R. Diagnosis: DMD
Patient's R. father is 29 years old man of Canadian/Dutch origin, mother 19 year old woman of Italian origin. Pregnancy was without complications, the child was born vertex (normal spontaneous vaginal delivery). His birth weight was 4,1 kg, birth length 53,8 cm. In infancy his development was normal, parents didn't notice any physical and psychological delay until the child was 5 years old.
At the age of 5 there appeared signs of muscle weakness and deterioration of gait. He was unable to walk up and down stairs with alternating movements. It was difficult for him to get up from the floor, he began to fall at running, gait was awkward, there also appeared problems with articulation.
The boy was examined at the MDA clinic at Monmouth Medical Center were pseudohypertrophy of calves, decreased muscle strength in the lower extremities, hypo- and areflexy of certain muscle groups, positive Gower sign were reported. Blood test revealed considerably increased level of CK (creatininkinase).
In June 2003 R. had direct testing of genome DNA by PCR amplification that revealed deletion of exons (3 through 17) of the dystrophin gene predicted to shift the reading frame of the dystrophin mRNA resulting in a truncated and unstable protein. This indicates DMD (the correlation of reading frame with Duchenne of Becker muscular dystrophy phenotype is approximately 92%).
R. family addressed to different US clinics with a request to help in treating their child. Family reported the progression of the disease: R.'s gait worsened, he could hardly go up and down stairs, step over a small threshold, began to fall at usual walking, problems with chewing and swallowing, respiratory disorders at walking appeared, his speech became less comprehensive. Progressive atrophy of back and shoulder muscles and pseudohypertrophy of calves were reported.
R.'s first course of treatment at EmCell clinic consisted of transplantation of four fetal cell suspensions containing stem cells of different origin—mesenchymal, ecto- and endodermal.
On the next day after the first transplantation, we observed gait improvement, increase of muscle strength, enlivening of certain reflexes. For the present moment, R. has visited the clinic four times. You can view R.'s case reports from the clinic on this web-site and assess the results of treatment.
It is important to note that at present boy has considerably grown and gained weight without progressing of muscular dystrophy. R.'s parents report the improvement of gait, cessation of falls, progress in muscular and mental ability.