Gender and year of birth
Female, 1998
Description
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.
Current Treatments
- Continuous (24/7) non-invasive ventilation, managed by neuromuscular expert team, physical therapy, consultations witih cardiologist, electric wheelchair, orthopedic shoes, glasses
Prior Treatments
- 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
Considered treatments
- 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
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
This is me, M, in the picture. To be honest, it is impossible to describe me. I have a good sense of humour, I am happy and optimistic. I connect people and find hope, love and a good atmosphere. I am a special, beautiful person and I live my life fully.