The first signs of dystrophinopathy (motor and/or language delay, feeding difficulties, exercise intolerance, fatigue and myalgias…) appeared in these women from birth to the age of 12. The diagnosis was made within 6 months to 23 years.
The medical assessment of eleven of them (the twelfth, non-ambulatory, having died of terminal heart failure at the age of 37) at a median age of 23 years (9 to 56 years) with a median follow-up time of 17 years and two months showed :
- loss of walking at 20, 36 and 48 years of age for three of them and difficulty walking long distances or climbing steps for four others;
- five had retractions, two-thirds had a restriction of vital capacity, and three had minor ECG or echocardiographic abnormalities;
- all had regular follow-up by a neuromuscular disease specialist, nine had had a cardiac check-up in the previous 5 years, three had had rehabilitation care and only two had respiratory follow-up.
The authors call for a better knowledge of the different types of dystrophinopathy in women, as well as for an improvement in diagnosis and management, particularly respiratory and rehabilitation care, whatever the extent of the disease.
Long-term outcomes for females with early-onset dystrophinopathy. Houwen-van Opstal SLS, Tak RO, Pelsma M et al. Dev Med Child Neurol. 2022 Dec 23.