Hereditary neuralgic amyotrophy

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Hereditary Neuralgic Amyotrophy (== Template:IPA ==

The Template:IPA (International Phonetic Alphabet) is a system of phonetic notation based primarily on the Latin alphabet. It was devised by the International Phonetic Association in the late 19th century as a standardized representation of the sounds of spoken language.

Pronunciation

The pronunciation of the term "IPA" is /aɪ piː eɪ/ in English.

Etymology

The term "IPA" is an acronym for the International Phonetic Alphabet. The International Phonetic Association, founded in 1886, created the IPA to provide a single, universal system for the transcription of spoken language.

Related Terms

  • Phonetic notation: A system used to visually represent the sounds of speech. The IPA is one type of phonetic notation.
  • Phonetics: The study of the physical sounds of human speech. It is concerned with the physical properties of speech sounds (phonemes), and the processes of their physiological production, auditory reception, and neurophysiological perception.
  • Phonology: The study of the way sounds function within a particular language or languages. While phonetics concerns the physical production, acoustic transmission and perception of the sounds of speech, phonology describes the way sounds function within a particular language or languages.
  • Transcription (linguistics): The systematic representation of spoken language in written form. The source of the words transcribe and transcription, the term means "to write across" in Latin, and it's the process of converting spoken language into written form. In linguistics, this is often done using the IPA.

External links

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Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski) is a rare genetic disorder characterized by recurrent episodes of severe pain and muscle wasting in the shoulder and arm regions.

Etymology

The term "Hereditary Neuralgic Amyotrophy" is derived from the Greek words "hereditas" (inheritance), "neuron" (nerve), "algos" (pain), and "atrophia" (wasting away).

Symptoms

The primary symptoms of Hereditary Neuralgic Amyotrophy include nerve pain, muscle weakness, and muscle atrophy. These symptoms typically occur in episodes, which can last from a few weeks to several months.

Causes

Hereditary Neuralgic Amyotrophy is caused by mutations in the SEPT9 gene. This gene provides instructions for making a protein that is involved in the formation of septin filaments, which play a crucial role in cell division and cell shape.

Diagnosis

Diagnosis of Hereditary Neuralgic Amyotrophy is based on a clinical evaluation, detailed patient history, and specialized genetic testing to identify mutations in the SEPT9 gene.

Treatment

There is currently no cure for Hereditary Neuralgic Amyotrophy. Treatment is symptomatic and supportive, and may include pain management, physical therapy, and occupational therapy.

See also

References

External links

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