Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9

Area of Science:

• Neurology
• Genetics
• Quality of Life Research

Background:

• Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive genetic muscle disorder caused by FKRP gene mutations.
• LGMDR9 can lead to severe disability, cardiomyopathy, and respiratory failure.
• Understanding the impact of LGMDR9 on health-related quality of life (HRQoL) is vital for patient care and treatment strategies.

Purpose of the Study:

• To assess HRQoL in the Norwegian LGMDR9 population over a 14-month period.
• To examine the relationship between HRQoL, fatigue, and sleep quality in LGMDR9 patients.
• To identify specific challenges and needs within the LGMDR9 patient cohort.

Main Methods:

• A cohort of 16+ year old Norwegian LGMDR9 patients participated in the study.
• Health-related quality of life was measured using the INQoL and SF-36 questionnaires at baseline, 8, and 14 months.
• Fatigue and sleep quality were assessed at 9 months.

Main Results:

• Compared to normative data, LGMDR9 patients exhibited impaired SF-36 scores, except for mental health in males and pain.
• Over 14 months, homozygotes showed worsening weakness and disease burden (INQoL index).
• Fatigue (40%) and poor sleep (49%) were prevalent, correlating with muscle weakness, pain, and mental distress.

Conclusions:

• A 14-month follow-up revealed progressive weakness and increased burden in LGMDR9 homozygotes.
• The high prevalence and impact of fatigue necessitate increased awareness and targeted treatment.
• Addressing myalgia, mental distress, sleep disturbances, and gender-specific needs is crucial for comprehensive LGMDR9 care.