myotonia congenita

Thân thiện

A newborn baby shows signs of myotonia congenita when its hand remains clenched.

Definition

Noun: A mild, rare, congenital (present from birth) form of myotonia, characterized by muscle stiffness. It is a genetic disorder that affects the ability of muscles to relax after contraction.

Usage

This term is used in medical and clinical contexts to describe a specific inherited neuromuscular condition. * The diagnosis was myotonia congenita, explaining the patient's difficulty relaxing their grip. * Research into myotonia congenita focuses on the chloride channels in muscle cells.

Advanced Usage

• Thomsen's disease and Becker disease are eponymous names for the two main types of myotonia congenita, distinguished by their pattern of inheritance (autosomal dominant and autosomal recessive, respectively).

Variants and Related Words

• Myotonia (n): The broader medical term for delayed muscle relaxation after voluntary contraction, of which myotonia congenita is a specific type.
• Congenital (adj): Present from birth.

Synonyms

• Thomsen's disease (for the autosomal dominant form)
• Becker disease (for the autosomal recessive form)

Related Terms

• Neuromuscular disorder: A general category of diseases affecting nerves and muscles.
• Channelopathy: A disease caused by malfunction of ion channels, which is the underlying mechanism for myotonia congenita.

Học thuật

Noun

1. a mild, rare, congenital form of myotonia characterized by muscle stiffness

Từ đồng nghĩa

• thomsen's disease