How Do You Spell CHOREOATHETOSIS SELF MUTILATION HYPERURICEMIA SYNDROME?

Pronunciation: [kˌɔːɹɪˌə͡ʊθɪtˈə͡ʊsɪs sˈɛlf mjˌuːtɪlˈe͡ɪʃən hˌa͡ɪpəɹˌʊ͡əɹa͡ɪsˈiːmi͡ə sˈɪndɹə͡ʊm] (IPA)

Choreoathetosis Self Mutilation Hyperuricemia Syndrome is a rare genetic disorder characterized by involuntary movements, self-injurious behavior, and high levels of uric acid. The spelling of this word may seem intimidating, but it can be broken down using the International Phonetic Alphabet (IPA). The first two syllables are pronounced "koh-ree-oh," with the "ch" sound represented by the /k/ sound followed by /o/ and /r/. The next two syllables, "ath-et-o-sis," are pronounced with a long "a" sound followed by /th/ and /s/. The final three syllables "-self mu-til-ation" are pronounced as written, followed by "hy-per-yuh-ree-see-mee-uh."

CHOREOATHETOSIS SELF MUTILATION HYPERURICEMIA SYNDROME Meaning and Definition

1. Choreoathetosis Self Mutilation Hyperuricemia Syndrome (CSMHS) is a rare genetic disorder characterized by a combination of choreoathetosis, self-mutilation, and hyperuricemia.

   Choreoathetosis refers to a movement disorder cause by involuntary, irregular, and purposeless muscle contractions, leading to abnormal writhing or jerking movements. Self-mutilation refers to the deliberate act of causing harm to oneself, which can manifest as biting, scratching, hitting, or any other form of self-inflicted injury. Hyperuricemia refers to the elevated levels of uric acid in the blood, which can lead to the formation of uric acid crystals in joints and tissues, resulting in severe pain and inflammation.

   CSMHS usually presents in early infancy or childhood and is caused by mutations in specific genes. The exact mechanisms underlying the disorder are not yet fully understood. Individuals with CSMHS often exhibit a range of symptoms including involuntary movements, self-injury behaviors, intellectual disability, delayed development, and distinctive facial features.

   The treatment for CSMHS is primarily supportive and focuses on managing the symptoms. This may involve a multidisciplinary approach, including medications to control movement disorders, behavior management strategies to address self-mutilation tendencies, physical therapy to optimize motor function, and medication or dietary modifications to control hyperuricemia.

   Due to the rarity of CSMHS, further research is needed to better understand the underlying mechanisms and develop more targeted treatments for this complex and debilitating syndrome.

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