Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional...

Area of Science:

• Neurology
• Genetics
• Rehabilitation Medicine

Background:

• Limb-girdle muscular dystrophy (LGMD) is a group of genetic muscle disorders with over 30 subtypes.
• LGMD presents with muscle weakness and can significantly impact health-related quality of life (HRQoL).
• Limited research exists on the psychosocial impact of LGMD, particularly comparing dominant and recessive forms.

Purpose of the Study:

• To profile patients with LGMD, comparing dominant and recessive forms.
• To analyze HRQoL and sociodemographic data in LGMD patients.
• To identify specific HRQoL dimensions affected by LGMD type.

Main Methods:

• Cross-sectional study design.
• Utilized the INQoL questionnaire to assess HRQoL.
• Collected and analyzed sociodemographic data.

Main Results:

• LGMD-recessive patients reported significantly worse HRQoL than LGMD-dominant patients.
• Key affected HRQoL dimensions in recessive LGMD included muscle weakness, emotion, independence, and body image.
• In dominant LGMD, age predicted relational indicators, suggesting social role limitations due to disease progression.

Conclusions:

• Recessive LGMD forms are associated with a greater negative impact on HRQoL compared to dominant forms.
• Sociodemographic factors did not predict HRQoL in recessive LGMD patients.
• Findings are crucial for clinical practice, highlighting specific HRQoL areas for intervention in different LGMD subtypes.