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Case history of patient R.

List of diseases > Nervous system > Duchenne Muscular Dystrophy > Case reports

Diagnosis: Duchenne muscular dystrophy

Original case reports from Cell Therapy Clinic

Laboratory tests (blood count, chemistry, immunology)

BIODEX test - reports for medical examinations in Monmouth Medical Center - of 07.06.2000 and 07.06.2000

BIODEX test - original reports from Monmouth Medical Centers

BIODEX test - summary table of muscular ability

Table of muscle tone compiled by US neurologists

Letter from R.'s parents.

R.'s case description

R. was born on the 19th of March 1991. Father is 29 year 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 1998 R. has 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 visit to the Clinic was on the 15th of June, 1999. The course of treatment consisted of transplantations of four embryonic cell suspensions containing stem cells of different origin - mesenchymal ecto- and endodermal. R stayed at the Clinic till the 21st of June, 1999.

On the next day, after first transplantations, we observed improvement of the gait, increase of muscle strength, enlivening of certain reflexes. For the present moment, R. has visited the Clinic four times. You can view R.'s original case reports from Cell Therapy Clinic and assess the results of treatment.

The data of instrumental examination (BIODEX test of 01.19.2000 and 07.06.2000) of R.'s muscles performed by American physicians and copies of original reports for BIODEX test are also available.

We have made a summary table of muscular activity in BIODEX test. It analyzes the period from July 1999 till July 2000.

Besides, we also present a table of muscle tone (in points) and a letter from R.'s parents received after the first course of therapy.

It is important to note that at present boy has considerably grown and gained weight without progressing of muscular dystrophy. R.'s patients report the improvement of gait, cessation of falls, progress in muscular and mental ability.


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