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Results 1 - 10 of 11 for Genetic neuromuscular disease
  1. Oculopharyngeal muscular dystrophy 
    ... Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and ... disease severity in oculopharyngeal muscular dystrophy. Neurology. 2017 Jan ...
    https://medlineplus.gov/.../oculopharyngeal-muscular-dystrophy - Genetics
  2. Glycogen storage disease type IV 
    ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Citation on PubMed
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  3. Giant axonal neuropathy 
    ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ... 11. Citation on PubMed Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal and ...
    https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy - Genetics
  4. Pseudocholinesterase deficiency 
    Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. ...
    https://medlineplus.gov/.../pseudocholinesterase-deficiency - Genetics
  5. Malignant hyperthermia 
    Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures. Specifically, this ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  6. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... show signs and symptoms of the condition. CCFDN Genetic Testing Registry: Congenital cataracts-facial dysmorphism-neuropathy syndrome ... cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  7. Schwartz-Jampel syndrome 
    Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  8. Multiple pterygium syndrome 
    ... condition. Escobar syndrome Familial pterygium syndrome Pterygium syndrome Genetic Testing Registry: Autosomal recessive multiple pterygium syndrome Genetic ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  9. Early-onset myopathy with fatal cardiomyopathy 
    ... myopathy Titinopathy & early-onset myopathy with fatal cardiomyopathy Genetic Testing Registry: Early-onset myopathy with fatal cardiomyopathy ...
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  10. Glycogen storage disease type III 
    ... Glycogen debrancher deficiency GSD III GSD3 Limit dextrinosis Genetic Testing Registry: Glycogen storage disease type III Glycogen ... Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis ... SC, Derks TGJ. Glycogen Storage Disease Type III. 2010 Mar 9 [updated 2022 Jan ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iii - Genetics
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