Myotonia refers to delayed relaxation after muscle contraction, which can cause muscle stiffness.
There are two forms of myotonia congenita, Thomsen disease and Becker disease, both of which involve the same gene, CLCN1. Thomsen disease is autosomal dominant Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more and manifests from infancy to 2 to 3 years of age. Becker disease is more common, is autosomal recessive Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more , has a later onset from 4 to 12 years of age, and tends to be more severe than the autosomal dominant form.
Myotonia congenita should not be confused with congenital myotonic dystrophy Congenital myotonic dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. Two types are recognized. Both affect voluntary muscles and one also affects involuntary muscles. Symptoms begin at adolescence... read more , a separate disorder.
Symptoms and Signs of Myotonia Congenita
In children with myotonia congenita, there is delayed relaxation after muscle contraction, which can cause muscle stiffness. Parents describe weakness or clumsiness in their children, as well as stiffness. Myotonic symptoms lessen with age but do not disappear, and they are most noticeable after a period of rest. Patients typically have hypertrophy of the skeletal muscles due to the sustained muscle activity and the increased muscle bulk gives them an "athletic" appearance.
In Thomsen disease, onset is in infancy or early childhood and begins in the upper limbs and face, whereas in Becker disease it begins later in childhood in the lower limbs, and has more pronounced muscle hypertrophy. There is no weakness in Thomsen disease, but Becker disease is associated with transient weakness after prolonged rest and sometimes with progressive weakness.
Diagnosis of Myotonia Congenita
EMG is often done and, sometimes, muscle biopsy. Genetic analysis can reveal abnormalities in the gene causing both the autosomal dominant and the autosomal recessive forms.
Treatment of Myotonia Congenita
Physical therapy and rehabilitation
Membrane-stabilizing drugs to decrease stiffness
Treatment of myotonia congenita is primarily symptomatic and supportive.
Membrane-stabilizing drugs may be used to decrease muscle stiffness and other symptoms associated with myotonia. Mexiletine has the most evidence of benefit, but other drugs include lamotrigine, carbamazepine, and phenytoin.
The following are English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Muscular Dystrophy Association: Information on research, treatment, technology, and support for patients living with myotonia congenita
National Organization for Rare Disorders: Comprehensive information regarding myotonia congenita, including standard and investigational therapies and links to related topics