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Disease Information for Batten-Turner Muscular dystrophy

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

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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