Adele D’amico
RYR1- related myopathies: clinical clues and outcome of a paediatric cohort
Autori
- ADELE D’AMICO (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – NEUROLOGIST)
- MICHELA CATTERUCCIA (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – NEUROLOGIST)
- DARIA DIODATO (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – NEUROLOGIST)
- IRENE MIZZONI (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – PHYSIOTERAPIST)
- GIACOMO DE LUCA (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – PHYSIOTERAPIST)
- ADELINA CARLESI (DEVELOPMENTAL NEUROLOGY, BAMBINO GESÙ CHILDREN’S HOSPITAL – PHYSIOTERAPIST)
- FABIANA FATTORI (3LABORATORY OF MEDICAL GENETICS, TRANSLATIONAL CYTOGENOMICS RESEARCH UNIT, BAMBINO GESÙ CHILDREN HOSPITAL – BIOLOGIST)
- LUCA BOSCO (3LABORATORY OF MEDICAL GENETICS, TRANSLATIONAL CYTOGENOMICS RESEARCH UNIT, BAMBINO GESÙ CHILDREN HOSPITAL – BIOLOGIST)
- MICHELE TOSI (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – CHILD NEUROLOGIST)
- ENRICO BERTINI (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – NEUROLOGIST)
Presentatore
ADELE D’AMICO (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL – NEUROLOGIST)
Modalità
Poster Session
Abstract
Background: RYR1-related myopathies (RYR1-RM) comprises a group of congenital myopathies with different clinical and histopathological pictures that result from AD or AR mutations in the RYR1 gene. The clinical spectrum was highly variable regardless of the mode of inheritance. Very few studies explored the natural history studies of RYR1-RM demonstrating that the clinical presentation, respiratory outcomes, and feeding outcomes were more severe at presentation and in the recessive group.
We describe the clinical phenotypes and the motor, respiratory and bulbar outcome of a cohort of mostly pediatric patients with RYR1-RM
Results: a whole cohort of 28 pediatric patients (M/F). 21 patients (75%) were recessive forms, the remaining 7 patients harbored de novo RYR1 mutation. The mean age was 8.4 y (5m-26y) and the mean time of follow up were 6 y (4m-25y). 19 patients had some neonatal signs, all but 3 patients achieved the ability to walk (delayed in 10 and lost in 1); 4 patients (14%) needed gastrostomy and 7 patients (25 %) were ventilated. In early childhood motor assessments showed gradual improvement with some worsening at pubertal stage in those patients.
Conclusion: The clinical study provides differential clinical clues and long-term data on disease progression in RYR1-related myopathies that may be useful for clinical management