How Do You Spell MYOTONIA ATROPHICA?

1. Myotonia Atrophica, also known as Dentatorubral-Pallidoluysian Atrophy (DRPLA), is a rare and progressive genetic disorder affecting the nervous system and muscles. It is categorized as a neurodegenerative disease, as it leads to the gradual degeneration and atrophy of specific brain regions and muscle groups.

   Characterized by muscle stiffness and wasting, Myotonia Atrophica typically manifests in early to mid-adulthood, although onset may occur at any age. Symptoms may vary widely among individuals, but common features include myotonia (delayed muscle relaxation), involuntary muscle jerks or spasms, unsteady gait, deteriorating coordination, and cognitive impairments such as memory loss and learning difficulties. Other symptoms can include difficulty swallowing, speech problems, mood changes, and epilepsy.

   The underlying cause of Myotonia Atrophica is a mutation in the ATN1 gene, which is responsible for producing a protein known as atrophin-1. This mutation leads to abnormal accumulation of a toxic form of atrophin-1 in certain brain regions, causing cell death and progressive degeneration. The disorder is inherited in an autosomal dominant pattern, meaning that a person has a 50% chance of developing it if they inherit the mutated gene from an affected parent.

   While there is no cure for Myotonia Atrophica, treatment mainly focuses on managing symptoms to improve quality of life. This may involve physical therapy to maintain muscle strength and flexibility, medications to alleviate myotonia or seizure activity, speech therapy, and psychological support. Genetic counseling is highly recommended for affected individuals or families, as it can provide vital information about the condition and the available options for family planning.

2. A familial m., the spasm being most marked when relaxation following contraction is essayed, in which there is more or less atrophy of the muscles of the face and sometimes of the extremities.

   A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.

Common Misspellings for MYOTONIA ATROPHICA

The word "Myotonia Atrophica" is a combination of two medical terms: "myotonia" and "atrophica".

- "Myotonia" comes from the Greek word "mūs" meaning "muscle" and the Greek word "tonos" meaning "tension". It refers to a condition characterized by the delayed relaxation of a muscle after contraction, causing sustained muscle stiffness or rigidity.

- "Atrophica" is derived from the Greek word "atrophos", which means "lacking nourishment" or "wasting away". It is used to describe a condition where there is a progressive loss of muscle tissue or muscle wasting.

So, when combined, "Myotonia Atrophica" refers to a medical condition that involves both muscle stiffness and progressive muscle wasting.