Long-term outcomes for females with early-onset dystrophinopathy

Saskia L S Houwen-van Opstal*, Ramon O Tak, Maaike Pelsma, Frederik M A van den Heuvel, Hermine A van Duyvenvoorde, Edith H C Cup, Lilian T L Sie, Johan S H Vles, Imelda J M de Groot, Nicol C Voermans, Michel A A P Willemsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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AIM: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.

METHOD: Twelve females with early-onset dystrophinopathy were followed for a median period of more than 17 years (range 1-36).

RESULTS: One patient died owing to end-stage cardiac failure. Cardiac abnormalities were observed in three of the remaining 11 participants. Respiratory function was reduced in seven of 10 participants. Fatigue, myalgia, lower back pain, and arthralgia were reported in more than six of the participants. Functional status varied from exercise intolerance to wheelchair dependency. Most or all of the 10 participants reported restrictions in participation in work (n = 10), household duties (n = 10), sports (n = 9), and education (n = 8). Only a few participants received followed-up pulmonary (n = 2) or rehabilitation (n = 3) care.

INTERPRETATION: Females with early-onset dystrophinopathy experience a wide range of impairments, comorbidities, limitations in activities, and restrictions in social participation. The whole spectrum should be acknowledged in the healthcare setting. Neuromuscular and cardiac follow-up are indispensable. Additional respiratory assessment and rehabilitation care are expected to improve health status and support daily activities and participation.

Original languageEnglish
Number of pages12
JournalDevelopmental Medicine and Child Neurology
Publication statusE-pub ahead of print - 23 Dec 2022

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