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This is the personal documentation about
muscular dystrophy

edited by Giovanni Naso


INDEX

In 1995 my son was diagnosed to have muscular dystrophy. At that time he

was little older than 3 years. Since then I am reading articles and web

pages about muscular dystrophy. I decided to write these pages about 

muscular dystrophy to share the information I am collecting with as many

people as possible and to give an order to the many notes I wrote in this 

period. These web pages are particularly useful to share information with 

people of the mailing lists: MD-List@Basix.COM and strength-l@dnaco.net 

though the notes reflect my personal point of view and the selection of 

themes that will be treated will appear incomplete to the majority of 

people. 

I hope at least they will be free from errors.  



1)  DEFINITIONS OF MUSCULAR DYSTROPHY AND BASIC CONCEPTS :



     1A) DEFINITION

     1B) MODES OF INHERITANCE: 

         - MY PERSONAL DOCUMENTATION  

         - BY MUSCULAR DYSTROPHY GROUP OF GREAT BRITAIN

     1C) GENES

     1D) MUSCLE NOMENCLATURE

     1E) MUSCLE STRUCTURE

     1F) MUSCLE IMAGING

     1G) APOPTOSIS



2)  LABORATORY TESTS :



     2A) CPK

     2B) MUSCLE BIOPSY:

         - DR. CAROLINE SEVRY - HAMMERSMITH HOSPITAL

         - UNIVERSITY OF MANCHESTER

     2C) DNA



3)  FUNCTIONAL EVALUATION :



     3A) EMG

     3B) FUNCTIONAL IMPAIRMENT INDEX ( GSCG )

     3C) CARDIOLOGICAL

     3D) RESPIRATORY

     3E) ORTOPAEDIC

         - SPINE



4)  MUSCULAR DYSTROPHY'S RELEVANT PROTEINS 



     4A) DYSTROPHIN : MY PERSONAL DOCUMENTATION, FROM LEIDEN UNIVERSITY

     4B) DYSTROPHIN ASSOCIATED PROTEINS : MY PERSONAL DOCUMENTATION, FROM LEIDEN UNIVERSITY

         - SARCOGLYCAN COMPLEX FROM LEIDEN UNIVERSITY :

            - ALPHA SARCOGLYCAN : MY PERSONAL DOCUMENTATION, FROM LEIDEN UNIVERSITY

            - BETA SARCOGLYCAN FROM LEIDEN UNIVERSITY

            - GAMMA SARCOGLYCAN FROM LEIDEN UNIVERSITY

            - DELTA SARCOGLICAN FROM LEIDEN UNIVERSITY 

         - DYSTROGLYCAN COMPLEX

     4C) LAMININ COMPLEX 



5)  DIFFERENT MUSCULAR DYSTROPHIES :



     5A) DYSTROPHINOPATHIES : - DUCHENNE FROM MUSCULAR DYSTROPHY GROUP GB

                              - BECKER FROM MUSCULAR DYSTROPHY GROUP GB

         - PITTSBURG DMD/BMD FAQ : ENGLISH VERSION , ITALIAN VERSION

     5B) EMERY-DREIFUSS

     5C) FACIOSCAPULOHUMERAL

     5D) DISTAL

     5E) OCULOFARINGEAL

     5F) LIMB GIRDLE :

         - INTRODUCTION

         - LGMD2A

         - LGMD2B

         - LGMD2C

         - LGMD2D (ADHALINOPATHIES)

     5G) CONGENITAL



6)  TREATMENT :



     6A) PHYSIOTHERAPHY

     6B) SURGERY :

         - SPINE SURGERY :

            - SCOLIOSIS

            - LORDOSIS

     6C) ASSISTED VENTILATION

     6D) DRUG TREATMENT

     6E) MYOBLAST TRANSFER :

         - BAM VOL7

     6F) GENE THERAPY :

         - PARENT PROJECT  

         - 'KIDS with HEART' in Italia

         - TIGEM,TIGET

         - NMD VOL7 NUMBER 5 JULY 1997

         - HUMAN GENETIC THERAPHY TRIAL FOR DMD (CHAMBERLAIN-MENDELL) 

         - BONE MARROW TRANSPLANT : SCIENCE VOL.279 - 6 MARCH 1998 - PAG.1528

                                    SCIENCE VOL.279 - 6 MARCH 1998 - PAG.1456
7)  PSYCOLOGICAL AND SOCIOLOGICAL CONSIDERATIONS :



     7A) TELLING THE KIDS

     7B) ADOPTING A BABY WITH MUSCULAR DYSTROPHY

     7C) SCHOOL AND WEELCHAIR



8)  LINKS



9)  GLOSSARY



     9A) MY PERSONAL DOCUMENTATION

     9B) FROM MUSCULAR DYSTROPHY GROUP OF GREAT BRITAIN



10) MONITORED REFERENCES

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* Last update: 22 MARCH 1998 *