Disease Information for Fukuyama muscular dystrophy

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Myopathic facies/snarling smile
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle weakness
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Shallow Breathing Infant
Muscle Wasting/Diffuse
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Early Childhood/Infancy Muscular Dystrophy
Diagnostic Test Results
Electrodiagnosis
EMG/Abnormal findings
Associated Diseases & Rule outs
Rule Outs
Myotonia atrophica
Walker Warburg Syndrome
Associated Disease & Complications
Arthrogryposis, multiplex, congenita
Hypoventilation, alveolar
Muscular dystrophy
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 9q31
Pathophysiology/Gene locus 9q31-33
Pathophysiology/Merosin Deficient Muscle
Pathophysiology/Lung Hypoventilation
Process
PROCESS/Muscular dystrophy disorder (ex)
Synonyms
Synonym
(Fukuyama type), Benign congenital myopathy, Benign congenital myopathy (disorder), Congen hered musc dystroph, Congen heredit musc dystrophy, Congenital hereditary muscular dystrophy, Congenital hereditary muscular dystrophy (disorder), congenital myopathy benign, MUSCULAR DYSTROPHY CONGENITAL HEREDITARY, Synonym/Congenital Muscular Dystrophy
Definition

Fukuyama Type Congenital Muscular Dystrophy; Cerebromuscular Dystrophy, Fukuyama Type; Congenital Muscular Dystrophy, Fukuyama Type; FCMD;

Micropolygyria With Muscular Dystrophy;

Muscular Dystrophy, Congenital Progressive with Mental Retardation;Muscular Dystrophy, Congenital With Central Nervous System Involvement; Muscular Dystrophy, Congenital, Fukuyama Type; Muscular Dystrophy, Fukuyama Type;

Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy; It is inherited as an autosomal recessive trait; Symptoms of this disorder are apparent at birth and progress slowly; In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, mental retardation and speech problems; This disorder is predominantly found in Japan

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External Links Related to Fukuyama muscular dystrophy
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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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