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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.575 Myopathies, Structural, Congenital .
C05.651.575.290 Myopathies, Nemaline .
C05.651.662 Myotonic Disorders .
C05.651.662.500 Myotonia Congenita .
C10 Nervous System Diseases .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.545 Myotonia Congenita .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.550 Myopathies, Structural, Congenital .
C10.668.491.550.290 Myopathies, Nemaline .
C10.668.491.606 Myotonic Disorders .
C10.668.491.606.500 Myotonia Congenita .
C15 Hemic and Lymphatic Diseases .
C15.378 Hematologic Diseases .
C15.378.553 Leukocyte Disorders .
C15.378.553.774 Phagocyte Bactericidal Dysfunction .
C15.378.553.774.600 Job Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.540 Myotonia Congenita .
C20 Immune System Diseases .
C20.673 Immunologic Deficiency Syndromes .
C20.673.774 Phagocyte Bactericidal Dysfunction .
C20.673.774.600 Job Syndrome .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Myotonia Congenita .
Batten Turner Congenital Myopathy .
Batten-Turner Congenital Myopathy .
Becker Disease .
Congenital Myotonia .
Generalized Myotonia of Becker .
Generalized Myotonia of Thomsen .
Myopathy, Congenital .
Myotonia Congenita, Autosomal Dominant .
Myotonia Congenita, Autosomal Recessive .
Myotonia Levior .
Myotonia, Generalized .
Thomsen's Disease .
Thomsens Disease .
Disease, Becker .
Disease, Thomsen .
Disease, Thomsen's .
Disease, Thomsens .
Generalized Myotonia .
Generalized Myotonia, Becker .
Generalized Myotonias .
Myotonia, Becker Generalized .
Myotonias, Generalized .
Thomsen Generalized Myotonia .
Thomsen Disease .
Becker Generalized Myotonia .
Myotonia, Generalized, Becker .
THOMSEN'S DISEASE .
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. .
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Myopathies, Nemaline .
Adult Onset Nemaline Myopathy .
Autosomal Dominant Nemaline Myopathy .
Autosomal Recessive Nemaline Myopathy .
Childhood Onset Nemaline Myopathy .
Late Onset Nemaline Myopathy .
Nemaline Body Disease .
Nemaline Myopathy .
Nemaline Myopathy, Adult Onset .
Nemaline Myopathy, Autosomal Dominant .
Nemaline Myopathy, Autosomal Recessive .
Nemaline Myopathy, Childhood Onset .
Nemaline Myopathy, Late Onset .
Nemaline Rod Disease .
Rod Body Disease .
Rod Myopathy .
Rod-Body Myopathy .
Myopathies, Rod .
Myopathies, Rod-Body .
Myopathy, Rod Body .
Rod Body Myopathy .
Rod Myopathies .
Rod-Body Myopathies .
Myopathy, Nemaline .
Myopathy, Rod .
Nemaline Myopathies .
Myopathy, Rod-Body .
CENTRAL CORE DISEASE .
ROD MYOPATHY .
NEMALINE MYOPATHY .
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) .
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Job Syndrome .
Buckley Syndrome .
HIE Syndrome .
HIES, Autosomal Dominant .
Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive .
Hyper-IgE Syndrome .
Hyper-IgE Syndrome, Autosomal Dominant .
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant .
Hyperimmunoglobulin E, Recurrent Infection Syndrome .
Hyperimmunoglobulinemia E Syndrome .
Job-Buckley Syndrome .
Autosomal Dominant HIES .
Autosomal Dominant HIESs .
Autosomal Recessive HIES .
Autosomal Recessive HIESs .
Buckley Syndromes .
HIE Syndromes .
HIESs, Autosomal Dominant .
HIESs, Autosomal Recessive .
Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive .
Hyper IgE Syndrome .
Hyper IgE Syndrome, Autosomal Dominant .
Hyper IgE Syndrome, Autosomal Recessive .
Hyper Immunoglobulin E Syndrome, Autosomal Dominant .
Hyper Immunoglobulin E Syndrome, Autosomal Recessive .
Hyper-IgE Syndromes .
Hyperimmunoglobulin E Recurrent Infection Syndrome .
Hyperimmunoglobulinemia E Syndromes .
Job Buckley Syndrome .
Job Syndromes .
Job-Buckley Syndromes .
Jobs Syndrome .
Syndrome, Buckley .
Syndrome, HIE .
Syndrome, Hyper-IgE .
Syndrome, Hyperimmunoglobulinemia E .
Syndrome, Job .
Syndrome, Job's .
Syndrome, Job-Buckley .
Syndromes, Buckley .
Syndromes, HIE .
Syndromes, Hyperimmunoglobulinemia E .
Syndromes, Job .
Syndromes, Job-Buckley .
HIES, Autosomal Recessive .
Hyper-IgE Syndrome, Autosomal Recessive .
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive .
Hyperimmunoglobulin E-Recurrent Infection Syndrome .
Job's Syndrome .
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share. .
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Myopathies, Structural, Congenital .
Autosomal Dominant Myotubular Myopathy .
Autosomal Recessive Centronuclear Myopathy .
CFTDM .
Congenital Fiber-Type Disproportion .
Congenital Myopathy with Fiber Type Disproportion .
Congenital Non-Progressive Myopathies .
Congenital Structural Myopathies .
Fiber-Type Disproportion Myopathy, Congenital .
Myopathy, Centronuclear, 1 .
Myopathy, Centronuclear, Autosomal Dominant .
Myopathy, Congenital, With Fiber-Type Disproportion .
Myopathy, Tubular Aggregate .
Myotubular Myopathy .
Myotubular Myopathy 1 .
Myotubular Myopathy, Autosomal Dominant .
Myotubular Myopathy, X-Linked .
Non-Progressive Myopathies, Congenital .
Structural Myopathies, Congenital .
X-Linked Centronuclear Myopathy .
X-Linked Myotubular Myopathy .
XLMTM .
Aggregate Myopathies, Tubular .
Aggregate Myopathy, Tubular .
Centronuclear Myopathies .
Centronuclear Myopathies, X-Linked .
Centronuclear Myopathy, X-Linked .
Congenital Fiber-Type Disproportions .
Congenital Non Progressive Myopathies .
Congenital Non-Progressive Myopathy .
Congenital Structural Myopathy .
Disproportion, Congenital Fiber-Type .
Disproportions, Congenital Fiber-Type .
Fiber Type Disproportion Myopathy, Congenital .
Fiber-Type Disproportion, Congenital .
Fiber-Type Disproportions, Congenital .
Myopathies, Centronuclear .
Myopathies, Congenital Non-Progressive .
Myopathies, Congenital Structural .
Myopathies, Myotubular .
Myopathies, Tubular Aggregate .
Myopathies, X-Linked Centronuclear .
Myopathies, X-Linked Myotubular .
Myopathy, Centronuclear .
Myopathy, Congenital Non-Progressive .
Myopathy, Congenital Structural .
Myopathy, X-Linked Centronuclear .
Myopathy, X-Linked Myotubular .
Myotubular Myopathies .
Myotubular Myopathies, X-Linked .
Myotubular Myopathy, X Linked .
Non Progressive Myopathies, Congenital .
Non-Progressive Myopathy, Congenital .
Structural Myopathy, Congenital .
Tubular Aggregate Myopathies .
X Linked Centronuclear Myopathy .
X Linked Myotubular Myopathy .
X-Linked Centronuclear Myopathies .
X-Linked Myotubular Myopathies .
Centronuclear Myopathy .
Congenital Fiber Type Disproportion .
Myopathy, Myotubular .
Tubular Aggregate Myopathy .
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. .
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