{"id":20910,"date":"2022-05-25T09:58:28","date_gmt":"2022-05-25T09:58:28","guid":{"rendered":"https:\/\/fundacionnoelia.org\/?page_id=20910"},"modified":"2026-04-22T10:20:25","modified_gmt":"2026-04-22T10:20:25","slug":"the-disease","status":"publish","type":"page","link":"https:\/\/fundacionnoelia.org\/en\/the-disease\/","title":{"rendered":"The Disease"},"content":{"rendered":"[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_row_inner][vc_column_inner][vc_column_text]\n

WHAT IS THE CMD FOR COLLAGEN VI DEFICIT?<\/h2>\n

CONGENITAL MUSCULAR DISTROPHY (CMD) CAUSED BY DEFICIT IN COLLAGEN VI IS A VERY SEVERE ILLNESS. THIS TYPE OF CMD IS ONE OF THE RARE DISEASES, AND AT THE MOMENT DOES NOT HAVE CURE.<\/h4>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner width=”2\/5″][vc_column_text]CMD caused by d\u00e8ficit in collagen VI is a\u00a0degenerative illness<\/strong>\u00a0that affects the muscles. It is caused by a mutation in some of the genes involved in the syntesisof collagen VI (COL6A1, COL6A2, COL6A3).<\/p>\n

There are 2 different kind of illness depending on the evolution:<\/strong>
\n\u2022 The\u00a0DMC Ullrich<\/strong>, is clinically more severe.
\n\u2022 The\u00a0DMC Bethlem<\/strong>, is clinically less severe.<\/p>\n

We are currently seeing intermediate forms between them.[\/vc_column_text][\/vc_column_inner][vc_column_inner width=”1\/5″]

\"\"<\/div><\/figure>[\/vc_column_inner][vc_column_inner width=”2\/5″][vc_column_text]This illness is present from birth, the main symptoms are lack off strenght in the muscles, fingers and toes hyperlaxity and contractures that tend to improve at the beginning and then can progress again. The tendons are shorter too, specially the Achilles tendon, muscular weakness and spinal rigidity.<\/p>\n

Most of the patients affected acquire the ability to walk until the end of the first decade. Accompanying the loss of ability to walk around this time a nocturnal respiratory insuficiency appears and emerges progressively, and they will need to use a night ventilator, if not the potential risk of death increases.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner]

Know More<\/span><\/a><\/div> [\/vc_column][vc_column width=”1\/6″][\/vc_column][\/vc_row][vc_row][vc_column]
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Your collaboration is vital for us<\/div>
Colaborate!<\/div><\/div><\/div><\/a><\/div>[\/vc_column][\/vc_row][vc_row][vc_column width=”1\/2″ css=”.vc_custom_1646655163442{background-image: url(https:\/\/fundacionnoelia.org\/wp-content\/uploads\/2022\/03\/fisioterapia.png?id=256) !important;}”][vc_empty_space height=”550px”][\/vc_column][vc_column width=”1\/2″][vc_row_inner][vc_column_inner width=”1\/6″][\/vc_column_inner][vc_column_inner width=”4\/6″][vc_empty_space height=”50px”][vc_column_text]\n
PHYSIOTHERAPY IS KEY IN THE TREATMENT OF COLLAGEN VI CONGENITAL MUSCULAR DYSTROPHY\u2026<\/h5>\n

Physiotherapy Exercises<\/h1>\n

Physiotherapy is a fundamental therapeutic resource to maximize the patient\u2019s functional capacity and minimize complications. It helps to prevent and\/or reducing muscle contractures, preventing and\/or reducing joint and spinal stiffness as well as delaying the appearance of retractions.[\/vc_column_text][vc_empty_space height=”50px”]Go to Physiotherapy Exercises<\/span><\/a> [\/vc_column_inner][vc_column_inner width=”1\/6″][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row css=”.vc_custom_1646655237068{background-color: #ededed !important;}”][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_column_text]\n

Research Projects<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner width=”1\/3″]
\"INTERNATIONAL<\/figure>

INTERNATIONAL CONSORTIUM FOR COL6-CMD RESEARCH<\/h4>

Creation of the International Consortium for Col6 Research.<\/p>\n

View Project<\/a><\/p>\n<\/div><\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/3″]

\"BIOMARKER<\/figure>

BIOMARKER RESEARCH FOR COL6-RELATED DYSTROPHIES<\/h4>

Search for reliable biomarkers that allow evaluating the progression of the disease and the response to new treatments.<\/p>\n

View Project<\/a><\/p>\n<\/div><\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/3″]

\"PERSONALIZED<\/figure>

PERSONALIZED MEDICINE THERAPIES FOR CONGENITAL MUSCULAR DYSTROPHIES<\/h4>

Development of advanced molecular diagnostic methods for the accurate diagnosis of congenital muscular dystrophies and novel gene therapies for the treatment of collagen VI deficiency.<\/p>\n

View Project<\/a><\/p>\n<\/div><\/div><\/div>[\/vc_column_inner][\/vc_row_inner][vc_empty_space]

View All Projects<\/span><\/a><\/div> [\/vc_column][vc_column width=”1\/6″][\/vc_column][\/vc_row][vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_column_text]\n
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#CollagenVI News<\/h1>\n<\/div>\n
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STAY UP TO DATE WITH ALL THE NEWS ABOUT CONGENITAL MUSCULAR DYSTROPHY DUE TO COLLAGEN VI DEFICIENCY..<\/h4>\n

Here you will find a summary of each of the conferences and congresses that Fundaci\u00f3n Noelia attends and the most important articles about Collagen VI.<\/p>\n<\/div>\n[\/vc_column_text][vc_empty_space]