How Do You Spell SYMPTOMATIC PARAMYOTONIA?

1. Symptomatic paramyotonia is a rare neuromuscular disorder characterized by the presence of muscle stiffness and inhibitory attacks triggered by exposure to cold temperatures. This condition is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their offspring.

   The hallmark symptom of symptomatic paramyotonia is muscle stiffness or myotonia, which may be present from birth or develop later in childhood or adulthood. Myotonia refers to the delayed relaxation of muscles following contraction, leading to a prolonged muscle stiffness. Additionally, exposure to cold temperatures can exacerbate this stiffness and may also induce episodes of muscle weakness or paralysis, known as inhibitory attacks. These attacks usually resolve once the body warms up.

   Symptomatic paramyotonia is caused by mutations in the SCN4A gene, which provides instructions for the production of a protein involved in the functioning of sodium channels in muscle fibers. These mutations disrupt the normal function of these channels, leading to improper regulation of muscle contraction and relaxation.

   The diagnosis of symptomatic paramyotonia is typically established through a combination of clinical evaluation, electromyography (EMG) to assess muscle electrical activity, and genetic testing to identify mutations in the SCN4A gene.

   Treatment for symptomatic paramyotonia focuses on managing symptoms and minimizing the impact on daily life. This may involve avoiding triggers such as cold temperatures, as well as using medications to help alleviate muscle stiffness and weakness during episodes. Additionally, physical therapy and exercise can be beneficial in maintaining muscle function and flexibility.

2. A temporary rigidity of the muscles when first attempting to walk, noted in certain cases of paralysis agitans.

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

Common Misspellings for SYMPTOMATIC PARAMYOTONIA

The etymology of the term "symptomatic paramyotonia" can be broken down as follows:

1. Symptomatic: The word "symptomatic" is derived from the Greek word "symptomatikos", which means "pertaining to a symptom". It further traces back to the Greek word "symptoma", meaning "occurrence" or "symptom". The term refers to a condition or disease that presents symptoms.

2. Paramyotonia: The term "paramyotonia" is composed of two parts. "Para-" is a prefix derived from the Greek word "pará", meaning "beside" or "abnormal". "Myotonia" traces back to the Greek words "mys" (muscle) and "tonos" (tension), referring to a condition characterized by prolonged muscle contractions.