How Do You Spell AUTOSOMAL RECESSIVE NEMALINE MYOPATHY?

Pronunciation: [ˌɔːtə͡ʊsˈə͡ʊmə͡l ɹɪsˈɛsɪv nˈɛməlˌa͡ɪn ma͡ɪˈɒpəθɪ] (IPA)

Autosomal recessive nemaline myopathy is a rare genetic disease that affects muscle function. The word "Autosomal" refers to the type of inheritance, while "recessive" means that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the disease. "Nemaline" refers to the characteristic thread-like structures found in affected muscles. "Myopathy" simply means muscle disease. The IPA phonetic transcription would be /ɔːtəˈsoʊməl rɪˈsɛsɪv nɛməˌlaɪn mʌˈpæθi/.

AUTOSOMAL RECESSIVE NEMALINE MYOPATHY Meaning and Definition

  1. Autosomal recessive nemaline myopathy (ARNM) refers to a rare genetic disorder characterized by muscle weakness and decreased muscle tone, resulting from the presence of nemaline bodies within skeletal muscle fibers. Nemaline bodies are small thread-like structures that disrupt muscle function, leading to the skeletal muscle abnormalities observed in affected individuals.

    ARNM follows an autosomal recessive inheritance pattern, indicating that both copies of the causative gene must be mutated for the disease to manifest. Typically, unaffected parents of an affected individual each carry a single copy of the mutated gene and are referred to as carriers.

    Symptoms of autosomal recessive nemaline myopathy include generalized muscle weakness, poor muscle tone (hypotonia), and delayed motor milestones such as sitting and walking. Muscle weakness often affects the muscles of the face, throat, and limbs, making it difficult for individuals to perform everyday tasks and can also lead to respiratory and feeding difficulties.

    Diagnosis of ARNM involves clinical evaluation, assessment of muscle function, and potentially genetic testing to identify mutations in the genes associated with nemaline myopathy. Management of the condition often focuses on addressing the specific symptoms and providing supportive care, such as physical and occupational therapy to improve motor skills and muscle strength.

    While there is currently no cure for ARNM, ongoing research aims to develop novel treatment approaches and potential therapies to improve the quality of life for affected individuals. Genetic counseling is also recommended for affected individuals and their families to understand the risks and inheritance patterns associated with the condition.

Common Misspellings for AUTOSOMAL RECESSIVE NEMALINE MYOPATHY

  • zutosomal recessive nemaline myopathy
  • sutosomal recessive nemaline myopathy
  • wutosomal recessive nemaline myopathy
  • qutosomal recessive nemaline myopathy
  • aytosomal recessive nemaline myopathy
  • ahtosomal recessive nemaline myopathy
  • ajtosomal recessive nemaline myopathy
  • aitosomal recessive nemaline myopathy
  • a8tosomal recessive nemaline myopathy
  • a7tosomal recessive nemaline myopathy
  • aurosomal recessive nemaline myopathy
  • aufosomal recessive nemaline myopathy
  • augosomal recessive nemaline myopathy
  • auyosomal recessive nemaline myopathy
  • au6osomal recessive nemaline myopathy
  • au5osomal recessive nemaline myopathy
  • autisomal recessive nemaline myopathy
  • autksomal recessive nemaline myopathy
  • autlsomal recessive nemaline myopathy
  • autpsomal recessive nemaline myopathy

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