thomsen's disease
A child with Thomsen's disease struggles to open their hand after making a fist.
Noun: A mild, rare, congenital form of myotonia characterized by muscle stiffness. It is a genetic disorder where muscles have difficulty relaxing after voluntary contraction, leading to stiffness.
This is a highly specific medical term. It is used in clinical, genetic, and neurological contexts to refer to this particular inherited condition. * The patient's symptoms were consistent with a diagnosis of Thomsen's disease. * Thomsen's disease is also known as myotonia congenita.
- The term is often used in differential diagnosis to distinguish it from other forms of myotonia or muscular disorders.
- It is typically discussed in relation to its genetic cause (mutations in the CLCN1 gene) and its autosomal dominant inheritance pattern.
- Myotonia congenita (Thomsen): The full clinical name for the condition.
- Myotonia: The broader medical term for impaired muscle relaxation after contraction, of which Thomsen's disease is a specific type.
- Congenital myotonia: A more general descriptive term.
- Myotonia congenita (autosomal dominant form)
This term has only one specific meaning in modern medical English. It is an eponym, named after the Danish physician Asmus Julius Thomas Thomsen, who described the condition in his own family.
A child with Thomsen's disease struggles to open their hand after making a fist.
- a mild, rare, congenital form of myotonia characterized by muscle stiffness