Welcome to Zayden's Journey Blog
Join us on a journey through the challenges and triumphs of living with Congenital Myotonic Dystrophy Type 1. Discover the realities faced by those with this rare genetic disorder and their families.
Definitions of Myotonic Dystrophy
Myotonic dystrophy is a genetic multisystemic disease characterized by muscle wasting, myotonia, cataracts and heart defects. There are two main types: DM1 caused by CTG repeats on chromosome 19, and DM2 caused by CCTG repeats on chromosome 21. Symptoms range from mild myotonia to severe congenital weakness. Diagnosis involves muscle biopsy, EMG, ECG and MRI. While there is no cure, treatment focuses on symptom relief using medications, physical therapy and surgery.
https://www.slideshare.net/slideshow/myotonic-dystrophy-43875135/43875135
Resources:
Informational web sites:
https://www.mda.org/disease/myotonic-dystrophy/signs-and-symptoms/adult-onset-DM
https://www.myotonic.org/
https://www.musculardystrophyuk.org/conditions/a-z/myotonic-dystrophy/
https://www.mda.org/disease/myotonic-dystrophy
https://medlineplus.gov/genetics/condition/myotonic-dystrophy/
https://my.clevelandclinic.org/health/diseases/24516-myotonic-dystrophy-dm
https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/muscular-dystrophy/myotonic-dystrophy/
https://www.hopkinsmedicine.org/neurology-neurosurgery/specialty-areas/muscular-dystrophy/myotonic-muscular-dystrophy
https://rarediseases.org/rare-diseases/dystrophy-myotonic/
https://www.ncbi.nlm.nih.gov/books/NBK557446/
https://www.genome.gov/Genetic-Disorders/Myotonic-Dystrophy