Myotonia mental retardation skeletal anomalies
Overview
A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation
Symptoms
* Myotonia * Mental retardation * Skeletal anomalies * Muscle disease * Osteoporosis * Scoliosis * Short stature * Kyphosis * Vertebral shape abnormalities * Progressively abnormal gait * Painful leg spasms * Progressively rigid legs * Enlarged muscles
Causes
* Andersen cardiodysrhythmic periodic paralysis * Proximal myotonic myopathy * Myotonia congenita * Hypothyroidism * Myotonia fluctuans * Schwartz-Jampel-Aberfeld syndrome * Hyperkalaemic periodic paralysis * Becker generalized myotonia * Gamstorp-Wohlfart syndrome * Paramyotonia congenita of von Eulenburg * Myotonic dystrophy
Diagnosis
Emotional Stress Tests
Resources
Myotonia mental retardation skeletal anomalies: Another name for Richieri-Costa Da Silva syndrome