Clinico‑genetic heterogeneity of chondrodysthrophic myotonia

Chondrodystrophic myotonia characterized by generalized myotonic myopathy, masklike face, skeletal dysplasia, contracture of joints,growth retardation and bone maturation delay. Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2...

Full description

Saved in:
Bibliographic Details
Published in:Nervno-myshechnye bolezni 2015-02 (2), p.29-39
Main Author: N. A. Shnayder
Format: Article
Language:Russian
Subjects:
chondrodystrophic myotonia
clinics
genetics
schwartz–jampel syndrome
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Chondrodystrophic myotonia characterized by generalized myotonic myopathy, masklike face, skeletal dysplasia, contracture of joints,growth retardation and bone maturation delay. Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2 (Stuve–Wiedemann syndrome), and the classical form (Schwartz–Jampel syndrome) with late infantile or childhood manifestation. Therapy targets electrical stabilization of the muscle membrane. Successful therapies include anticonvulsants and antiarrhythmic drugs.
ISSN:2222-8721
2413-0443
DOI:10.17650/2222-8721-2012-0-2-29-39