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Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most
Author(s) -
Hunter Michael,
Heatwole Chad,
Wicklund Matthew,
Weihl Conrad C.,
Mozaffar Tahseen,
Statland Jeffrey M.,
Johnson Nicholas E.
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26636
Subject(s) - limb girdle muscular dystrophy , pelvic girdle , distress , affect (linguistics) , perspective (graphical) , muscular dystrophy , shoulder girdle , medicine , quality of life (healthcare) , physical medicine and rehabilitation , physical therapy , psychology , clinical psychology , anatomy , nursing , genetics , phenotype , communication , artificial intelligence , biology , gene , computer science
Limb‐girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder girdle, and other proximal limb muscles. Studies focusing on the physical, mental, and social effects of this disease from the patient's perspective are limited. Methods Adults with LGMD were interviewed and asked to identify issues that have the greatest impact on their quality of life. Each interview was recorded, transcribed, coded, and analyzed. Results Participants provided 1385 direct quotes. One hundred sixty‐five potential symptoms of importance were identified and grouped into 15 larger themes. The most frequently reported themes included limitations with mobility, difficulty performing activities, social role limitations, and emotional distress. Discussion There are multiple symptoms that alter the lives of adults with LGMD. These affect their physical, emotional, and social health, and may be amenable to medical intervention.