A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Adenylosuccinate synthase-like 1 (ADSS1) myopathy is an ultra-rare genetic disorder.
• Caused by biallelic pathogenic variants in the ADSS1 gene, it leads to progressive muscle weakness, fatigue, dysphagia, and potentially cardiomyopathy and respiratory failure.

Purpose of the Study:

• To evaluate the impact of ADSS1 myopathy on patients' daily lives.
• To comprehensively assess the quality of life for individuals with ADSS1 myopathy.

Main Methods:

• Conducted individual interviews with 31 participants diagnosed with ADSS1 myopathy across six countries.
• Utilized structured interviews incorporating open-ended questions and the Individualized Neuromuscular Quality of Life (INQoL) questionnaire.
• Employed thematic analysis to identify key patient concerns, symptoms, and quality-of-life challenges.

Main Results:

• The most frequently reported symptoms were declining mobility/motor skills (54.8%) and muscle weakness (48.3%), predominantly in the lower extremities.
• Mobility decline, motor skills impairment, and gait disturbance were the primary concerns (58.0%).
• All patients except one reported fatigue, and 64.5% experienced pain, mainly in the lower extremities. Only 5% reported no impact on work or social life.
• Key treatment priorities included improving motor function (51.6%) and halting disease progression (48.3%).

Conclusions:

• ADSS1 myopathy imposes a substantial physical and psychosocial burden on patients.
• Progressive muscle weakness and multisystem involvement significantly affect daily functioning.
• The findings emphasize the critical need for early diagnosis and integrated multidisciplinary care strategies.