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Results 1 - 10 of 18 for Severe muscular hypotonia
  1. Collagen VI-related dystrophy 
    ... and Ullrich congenital muscular dystrophy is the most severe.People with Bethlem muscular dystrophy usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at any ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  2. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
  3. Glycogen storage disease type IV 
    ... to weakened heart and breathing muscles.The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  4. LAMA2-related muscular dystrophy 
    ... congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  5. Fukuyama congenital muscular dystrophy 
    ... congenital muscular dystrophy can vary from mild to severe.Fukuyama congenital ... muscle tone (hypotonia). Weakness of the facial muscles often leads to ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  6. Spinal muscular atrophy 
    ... are caused by mutations in other genes.Spinal muscular atrophy type 0 is ... muscle tone (hypotonia) at birth. Their respiratory muscles are very weak ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  7. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  8. Incontinentia Pigmenti From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
    https://rarediseases.info.nih.gov/.../6778/incontinentia-pigmenti - External Health Links
  9. GARS1 gene 
    ... motor neuropathy, type V. This may cause the severe muscle weakness seen in people with GARS1 infantile- ... Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  10. LMNA-related congenital muscular dystrophy 
    ... J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43( ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
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