8C71.2 Myotonia congenita

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Thomsen and Becker disease are myotonic disorders characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres occurring within the first few months after birth. The myotonia is unusual in that it is relieved by exercise (warm-up effect). Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Transient muscle weakness is a characteristic feature.

synonyms

• Myotonia congenita
• congenital myotonia
• congenital myotonic muscular dystrophy
• Myotonia congenita NOS
• Myotonia congenita, dominant
• Thomsen disease, dominant
• Thomsen disease
• Thomsen myotonia congenita
• myotonia congenita, autosomal dominant form
• dominant myotonia congenita
• congenital myotonia, autosomal dominant form
• Chloride channel disorders, autosomal dominant inheritance
• Potassium-aggravated myotonia
• Acetazolamide-responsive myotonia
• Myotonia fluctuans
• Myotonia permanens
• Myotonia congenita, recessive
• Becker's disease, recessive
• Chloride channel disorders, autosomal recessive inheritance

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