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Disease Information for Emery-Dreifuss Muscular Dystrophy/Limb Girdle type
- Clinical Manifestations
- Signs & Symptoms
- Arrhythmia signs/irregular pulse
- Irregular rhythm/heartbeat
- Muscle Atrophy
- Muscle weakness
- Proximal muscle weakness
- Proximal symmetrical muscle weakness
- Symmetrical muscle involvement/stiffness
- Unable to walk
- Waddling Trendelenberg Gait
- Weakness/Diffuse motor loss
- Child won't walk
- Balance problems
- Falling
- Disease Progression
- Onset/adult
- Demographics & Risk Factors
- Sex & Age Groups
- Population/Child
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- DNATest specific/genetics laboratory/abnormality (Lab)
- Diagnostic Test Results
- Electrodiagnosis
- EMG/Abnormal findings
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Ankle contracture
- Cardiac arrhythmias
- Cardiac conduction defects
- Cardiomyopathy, secondary
- Elbow contractures
- Heart block, complete
- Joint contractures
- Muscular dystrophy
- Muscular dystrophy, limb girdle type
- Disease Mechanism & Classification
- Class
- CLASS/Striated muscle disorder (ex)
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Hereditofamilial (category)
- PROCESS/Hereditofamilial variant/pedigrees reported (ex)
- PROCESS/Subsets/Variable dominance/sex linkage
- PROCESS/X-Linked dominant inheritance (ex)
- PROCESS/Muscular dystrophy disorder (ex)
- Treatment
- Other Treatments
- TX/Physical therapy
- Definition
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Muscular Dystrophy, Emery Dreifuss; Autosomal dominant Emery-Dreifuss muscular dystrophy; Autosomal recessive Emery-Dreifuss muscular dystrophy; Dreifuss-Emery Type Muscular Dystrophy with Contractures; EDMD; Emery-Dreifuss syndrome; Tardive Muscular Dystrophy; X-Linked recessive Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy is a rare, often slowly progressive form of muscular dystrophy affecting the muscles of the arms, legs, face, neck, spine and heart; The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy); Major symptoms may include muscle wasting and weakness particularly in the upper legs and arms (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles; In some cases, additional abnormalities may be present; Emery-Dreifuss muscular dystrophy is inherited as an X-linked, autosomal dominant or autosomal recessive trait----------[NORD]-------------
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- External Links Related to Emery-Dreifuss Muscular Dystrophy/Limb Girdle type
- 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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