How Do You Spell ENGELMANN DISEASE?

Pronunciation: [ɛnd͡ʒˈɛlman dɪzˈiːz] (IPA)

Engelmann Disease, pronounced as [ˈɛŋɡəlmən dɪˈziz], is a rare genetic condition characterized by an abnormal overgrowth of bone tissue. The spelling of Engelmann is based on the German name Engelmann, which is composed of two syllables, "Engel" and "mann". The first syllable, "Engel", is pronounced with the vowel sound /ɛ/, while the second syllable, "mann", has the vowel sound /a/. The word "disease" is spelled as it is commonly used in English and is pronounced as [dɪˈziz]. Together, the correct pronunciation of Engelmann Disease is [ˈɛŋɡəlmən dɪˈziz].

ENGELMANN DISEASE Meaning and Definition

1. Engelmann disease, also known as Engelmann syndrome or progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal bone development and skeletal abnormalities. Named after the American pediatrician Henry A. Engelmann, who first described the condition in 1929, Engelmann disease primarily affects the long bones of the body.

   Individuals with Engelmann disease typically experience progressive thickening of the bones, primarily those in the arms and legs. This can lead to various symptoms, including pain, muscle weakness, and limitation of joint movement. Other features of the condition may include a waddling gait, delayed puberty, scoliosis, and an increased risk of fractures.

   The disease is caused by mutations in the gene encoding transforming growth factor beta 1 (TGF-β1), a protein that plays a crucial role in the regulation of bone growth and development. These mutations result in an overproduction of TGF-β1, which leads to abnormal bone remodeling and excessive bone formation.

   Engelmann disease is inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the condition if one parent carries the mutated gene. However, in some cases, the condition may occur sporadically without a family history.

   Treatment options for Engelmann disease are limited and primarily focus on managing symptoms and preventing complications. This may include the use of non-steroidal anti-inflammatory drugs (NSAIDs) to alleviate pain and physical therapy to improve muscle strength and mobility. In severe cases, surgical intervention may be necessary to correct bone deformities or fractures.

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Etymology of ENGELMANN DISEASE

There is no known disease called "Engelmann Disease". However, there is a condition known as "Engelmann syndrome" or "Engelmann-Camurati disease", which is a rare genetic disorder characterized by progressive thickening of the bones and muscle weakness.

The term "Engelmann syndrome" is named after Friedrich Engelmann, a German ophthalmologist who first described the condition in 1929. Friedrich Engelmann was known for his contributions in the field of ophthalmology and his research on various genetic eye diseases.