How Do You Spell ARANDUCHENNES DISEASE?

Pronunciation: [ˈaɹən dˈʌt͡ʃənz dɪzˈiːz] (IPA)

The genetic disorder AranDuchennes disease is spelled with two capital letters ‘A’ and ‘D’ followed by a combination of small and capital letters for the rest of the word. It is pronounced as /ɛərænˈduʃɛn/, with stress on the third syllable. The phonetic transcription shows that the first syllable is pronounced like ‘air’, followed by a schwa sound in the second syllable. The ‘ch’ in the third syllable is pronounced like ‘sh’. The last two syllables have a short vowel with the ‘en’ pronounced like ‘in’.

Meaning and Definition
Etymology
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ARANDUCHENNES DISEASE Meaning and Definition

  1. Aran-Duchenne's disease, also known as spinal muscular atrophy type I (SMA type I), is a rare and severe genetic disorder characterized by the progressive degeneration of motor neurons in the spinal cord and brainstem. It is named after two physicians, Jean-Martin Aran and Guillaume Benjamin Amand Duchenne, who first described its clinical features and pathology.

    This disease primarily affects infants and young children, usually manifesting within the first few months of life, and can lead to severe muscle weakness and respiratory difficulties. The loss of motor neurons hampers the individual's ability to control voluntary muscle movements, resulting in significant functional disabilities.

    Symptoms of Aran-Duchenne's disease may include difficulty breathing, weak cry, floppy limbs, limited mobility, and diminished muscle tone. The prognosis is generally poor, with most affected individuals having a life expectancy into early childhood or adolescence. The condition is caused by mutations in the survival motor neuron 1 (SMN1) gene, which is involved in the production of a protein necessary for the maintenance and survival of motor neurons.

    While there is currently no cure for Aran-Duchenne's disease, supportive care aims to manage symptoms and improve the quality of life for affected individuals. This may involve respiratory assistance, physical therapy, and interventions to prevent complications such as pneumonia. Advances in molecular genetics have led to the development of potential treatment options, including gene therapy and pharmacological approaches, offering hope for future therapeutic interventions.

Etymology of ARANDUCHENNES DISEASE

The word "Duchenne" in "Duchenne muscular dystrophy" refers to the French neurologist Guillaume-Benjamin-Amand Duchenne, who first described the disease in the mid-19th century.

The term "Aran" in "AranDuchenne disease" does not actually exist as a recognized medical term. It seems to be a misspelling or a combination of terms. The correct name for the disease is "Duchenne muscular dystrophy" (DMD).