TY - JOUR
T1 - Limb-girdle muscular dystrophy
T2 - A perspective from adult patients on what matters most
AU - Hunter, Michael
AU - Heatwole, Chad
AU - Wicklund, Matthew
AU - Weihl, Conrad C.
AU - Mozaffar, Tahseen
AU - Statland, Jeffrey M.
AU - Johnson, Nicholas E.
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/10/1
Y1 - 2019/10/1
N2 - Introduction: 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.
AB - Introduction: 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.
KW - disease burden
KW - limb-girdle muscular dystrophy
KW - neuromuscular diseases
KW - rare diseases
KW - signs and symptoms
UR - http://www.scopus.com/inward/record.url?scp=85069853000&partnerID=8YFLogxK
U2 - 10.1002/mus.26636
DO - 10.1002/mus.26636
M3 - Article
C2 - 31298728
AN - SCOPUS:85069853000
SN - 0148-639X
VL - 60
SP - 419
EP - 424
JO - Muscle and Nerve
JF - Muscle and Nerve
IS - 4
ER -