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Results 1 - 10 of 55 for myopathy facies
  1. STAC3 disorder 
    ... symptoms of the condition. Myopathy, congenital, Bailey-Bloch Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia NAM Native American myopathy ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  2. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic Disorders/Specifics ... Genetic Disorders ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  3. Cap myopathy 
    ... movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  4. X-linked myotubular myopathy 
    ... hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have recurrent ear and respiratory infections, seizures, or ... myopathy usually survive only into early childhood; however, some ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  5. TPM3 gene 
    ... a condition called nemaline myopathy. People with nemaline myopathy typically have muscle weakness throughout their body, including the muscles of the face, neck, and limbs. When nemaline myopathy is caused ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  6. Laing distal myopathy 
    ... weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. ... myopathy progresses very gradually, and most affected people remain ...
    https://medlineplus.gov/genetics/condition/laing-distal-myopathy - Genetics
  7. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  8. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... National Institute of Neurological ...
    https://www.ninds.nih.gov/.../mitochondrial-disorders#leigh-syndrome - External Health Links
  9. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Mitochondrial Diseases/Specifics
    https://www.ninds.nih.gov/...s#mitochondrial-dna-depletion-syndromes - External Health Links
  10. Nemaline myopathy 
    ... movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
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