How Do You Spell MACHADO JOSEPH DISEASE TYPE I?

Pronunciation: [mat͡ʃˈɑːdə͡ʊ d͡ʒˈə͡ʊsəf dɪzˈiːz tˈa͡ɪp ˈa͡ɪ] (IPA)

Machado Joseph Disease Type I is a genetic disorder that affects the central nervous system. The spelling of this word can be explained using the International Phonetic Alphabet (IPA): /məˈʃɑdoʊ ˈdʒoʊzɛf dɪˈziz taɪp wʌn/ . The first syllable is pronounced with a schwa sound, and the second syllable has stress. The word "Joseph" is spelled as /ˈdʒoʊzɛf/, with stress on the first syllable. The word "Type" is pronounced as /taɪp/ with a long "i" sound. Understanding the IPA phonetic transcription can help individuals correctly spell and pronounce complex medical terms like Machado Joseph Disease Type I.

MACHADO JOSEPH DISEASE TYPE I Meaning and Definition

1. Machado Joseph Disease Type I, also known as Spinocerebellar Ataxia Type 3 (SCA3), is an inherited neurodegenerative disorder that affects the central nervous system. It belongs to a class of genetic disorders known as spinocerebellar ataxias, characterized by progressive degeneration of specific regions of the brain and spinal cord.

   This particular subtype of Machado Joseph Disease is classified as Type I, which signifies an earlier onset and more severe form of the condition. Symptoms usually manifest in early adulthood, typically between the ages of 20 and 30. These symptoms primarily include progressive gait and limb ataxia, leading to unsteadiness and difficulties with coordination, balance, and walking. Individuals affected by Machado Joseph Disease Type I may also experience dysarthria (speech difficulties), dysphagia (difficulty swallowing), and pyramidal signs (muscle stiffness or weakness).

   Machado Joseph Disease Type I is caused by a mutation in the ATXN3 gene on chromosome 14. This mutation involves an expansion of a repetitive nucleotide sequence, resulting in an abnormal elongation of a protein called ataxin-3. Affected individuals inherit the mutated gene from an affected parent, following an autosomal dominant pattern of inheritance.

   There is currently no cure for Machado Joseph Disease Type I, and treatment primarily focuses on managing symptoms and providing supportive care. Physical therapy, speech therapy, and occupational therapy can help individuals maintain their functional abilities and improve their quality of life. Ongoing research aims to develop potential therapeutic approaches to slow the progression of the disease and ultimately find a cure.

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