Maudy

Maudy is undiagnosed
Maudy is undiagnosed
Date of Report

Maudy

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.

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.


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