Disease Information for Congenital Muscular Dystrophy

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Decreased fetal movement
Dysphagia Swallowing Difficulties
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle Atrophy
Muscle weakness
Muscles Soft/Doughy Infant
Pelvic/limb girdle weakness/bilateral
Rolling Over Delay Infant
Weakness, trunk muscles
Winging of scapula
Delayed speech/language development
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Newborn Poor Sucking response/reflex
Shallow Breathing Infant
Hyperextensible joints Laxity Instability
Muscle Wasting/Diffuse
Ptosis (blepharoptosis)
Demographics & Risk Factors
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Infant One Month old
Population/Neonate-newborn
Population/Toddler
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Fiber atrophy
BX/Muscle biopsy/Increased interstitial tissue
Electrodiagnosis
EMG/Abnormal findings
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Associated Disease & Complications
Hydrocephalus
Hypoventilation, alveolar
Joint contractures
Mental retardation
Muscular dystrophy
Neonatal Hypotonia/Floppy Baby Syndrome
Ophthalmoplegia
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
Pathophysiology
Pathophysiology/Gene locus 12q13
Pathophysiology/Gene locus 14q24.3
Pathophysiology/Gene locus 19q13
Pathophysiology/Gene locus 1p36
Pathophysiology/Gene locus 21q22.3
Pathophysiology/Gene locus 2q37.3
Pathophysiology/Gene locus 9q31
Pathophysiology/Gene locus 9q31-33
Pathophysiology/Gene locus 9q34
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Merosin Deficient Muscle
Pathophysiology/Lung Hypoventilation
Pathophysiology/Gene locus 6q22-23
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Variant expressions/Subsets (ex)
Synonyms
Synonym
Lissencephaly syndrome
Definition
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External Links Related to Congenital 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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