Disease Information for Batten-Turner Muscular dystrophy

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Clinical Manifestations
Signs & Symptoms
Myopathic facies/snarling smile
Glossoptosis/Swallowing tongue
Muscle weakness
Weakness/Diffuse motor loss
Falling
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Very High CPK
Abnormal Lab Findings - Increased
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Diagnostic Test Results
Other Tests & Procedures
PFT/Forced vital capacity decreased
Pathology
BX/Muscle Biopsy Abnormal
Electrodiagnosis
EMG/Abnormal findings
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Rule Outs
Myotonia atrophica
Polymyositis
Associated Disease & Complications
Muscular dystrophy
Disease Mechanism & Classification
Class
CLASS/Motor neuron/unit disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
Synonyms
Synonym
BATTEN TURNER CONGENITAL MYOPATHY, Congenital myopathies, congenital myopathy, Congenital myopathy (disorder), Congenital progressive muscular dystrophy, Dystrophic muscle disease or syndrome, Dystrophic Muscle Diseases and Syndromes, Dystrophies Muscular, Dystrophy (Muscular), dystrophy muscular, dystrophy muscular congenital (hereditary) (progressive), dystrophy muscular hereditary (progressive), dystrophy muscular progressive (hereditary), Hered progres musc dystr, Heredit progres musc dystrophy, Hereditary progressive muscular dystrophy, Hereditary progressive muscular dystrophy (disorder), ITGA7,, MD Muscular dystrophy, Muscular Dystrophies, muscular dystrophy, Muscular dystrophy (disorder), muscular dystrophy congenital (hereditary) (progressive), muscular dystrophy hereditary (progressive), muscular dystrophy progressive (hereditary), Muscular dystrophy syndrome, Myodystrophica, Myodystrophicas, Myodystrophies, Myodystrophy, myopathy congenital, PMD Progressive muscul dystr, PMD Progressive muscular dystrophy, Progressive muscular dystrophy, Progressive muscular dystrophy hereditary, Synonym/Benign congenital muscular dystrophy synd.
Definition

Myopathy, Congenital, Batten Turner Type; Batten Turner Congenital Myopathy; Batten Turner Syndrome; Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia); The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood; However, this disorder is not progressive in adulthood; [NORD]

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External Links Related to Batten-Turner Muscular dystrophy
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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