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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