Gender and year of birth
Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely congenital myopathy with weakness of respiratory muscles.
Symptoms / Signs
- Speech delay, developmental delays, feet kept in adduction, non-familial traits, hirsutism, hypoventilation.
- Continuous (24/7) non-invasive ventilation, managed by neuromuscular expert team, physical therapy, consultations witih cardiologist, electric wheelchair, orthopedic shoes, glasses
- Speech therapy, physical therapy, day care, electric wheelchair. Medications: Dipiperon (pipamperone), Depakine (valproic acid), levothyroxine, ventilation. Surgeries: hysterectomy because of automutilation (automutilation during menstruation), tonsillectomy
- Not applicable
Previously Considered Diagnoses
- Trisomy 21 negative, 17p deletion (Smith-Magenis syndrome) negative
Genetic Variants of Interest
- Whole exome sequencing (trio) negative. SNP array negative. EHMT1, RAI1, MECP2 negative
Siblings, age & gender
Brother, 24 years
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