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Results 1 - 10 of 590 for Muscular Diseases
  1. Rippling muscle disease 
    Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  2. Early-onset myopathy with fatal cardiomyopathy 
    ... myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used ... usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure ...
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  3. CAV3 gene 
    ... have no muscle weakness or other symptoms of muscle disease. CAV3 gene mutations that cause isolated hyperCKemia lead ... mutations have been identified in people with rippling muscle disease, a condition in which the muscles are unusually ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  4. Isolated hyperCKemia 
    ... normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness ... related distal myopathy, limb-girdle muscular dystrophy, rippling muscle disease, and a heart disorder called hypertrophic cardiomyopathy. Several ...
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia - Genetics
  5. CAV3-related distal myopathy 
    ... other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic ...
    https://medlineplus.gov/.../condition/cav3-related-distal-myopathy - Genetics
  6. SELENON gene 
    ... single syndrome with variable signs and symptoms. Together, muscle diseases caused by SELENON gene mutations are known as ... Guicheney P, Allamand V. Selenoprotein N in skeletal muscle: from diseases to function. J Mol Med (Berl). 2012 Oct; ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  7. Limb-girdle muscular dystrophy 
    ... as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or Pompe disease. ANO5 CAPN3 CAV3 COL6A1 COL6A2 COL6A3 CRPPA DYSF FKRP FKTN LAMA2 LMNA MYOT ... POMGNT2 TCAP TNPO3 TRAPPC11 TRIM32 Limb-girdle muscular dystrophy can have different inheritance patterns.Most forms ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Actin-accumulation myopathy 
    ... Pettersson C, Romero N, Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep; ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  9. Glycogen storage disease type VII 
    ... blood. This finding is a common indicator of muscle disease.Infants with the severe infantile form of GSDVII ... Kirchberger J, Schoneberg T. Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease. Biochem Biophys Res Commun. 2012 Oct 12;427( ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-vii - Genetics
  10. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
    ... occur in IBMPFD include a severe and progressive muscular disease called amyotrophic lateral sclerosis and progressive problems with ... degeneration with Paget-like bone disease Multisystem proteinopathy Muscular ... of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal ...
    https://medlineplus.gov/...paget-disease-and-frontotemporal-dementia - Genetics
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