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
Disease Progression
Demographics & Risk Factors
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
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/Striated muscle disorder (ex)
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)
Other Treatments
TX/Physical therapy

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]-------------


External Links Related to Emery-Dreifuss Muscular Dystrophy/Limb Girdle type
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)