Congenital Myasthenic Syndrome Overview
Learn About Congenital Myasthenic Syndrome
- Congenital myasthenic syndromes
- CMS
- Congenital Myasthenia
- Congenital myasthenic syndrome
Hanns Lochmuller practices in Newcastle Upon Tyne, United Kingdom. Mr. Lochmuller is rated as an Elite expert by MediFind in the treatment of Congenital Myasthenic Syndrome. His top areas of expertise are Congenital Myasthenic Syndrome, Myotonic Dystrophy, Myotonic Dystrophy Type 2, and Paramyotonia Congenita.
Regents Of The Univ Of Ca
Ricardo Maselli is a Neurologist in Sacramento, California. Dr. Maselli is rated as an Elite provider by MediFind in the treatment of Congenital Myasthenic Syndrome. His top areas of expertise are Congenital Myasthenic Syndrome, Amyotonia Congenita, Lambert-Eaton Syndrome, and ADULT Syndrome.
Mayo Clinic
Duygu Selcen is a Pediatric Neurologist and a Pediatrics provider in Rochester, Minnesota. Dr. Selcen is rated as an Elite provider by MediFind in the treatment of Congenital Myasthenic Syndrome. Her top areas of expertise are Congenital Myasthenic Syndrome, Amyotonia Congenita, Tubular Aggregate Myopathy, and Congenital Fiber-Type Disproportion. Dr. Selcen is currently accepting new patients.
Summary: Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.
Background: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders that affect how the nerves communicate with muscles. These can cause many problems that affect how people can move and use their bodies.
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center