Disease Information for Ullrich Muscular Dystrophy

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Clinical Manifestations
Signs & Symptoms
Congenital facial deformities
Holoprosencephaly
Follicular hyperkeratosis
Failure to Thrive Child
Failure to thrive/infant sign
Slow eating pattern
Delay Sitting Unsupported Infant
Distal Muscle Weakness
Flexion contractures/extremities
Hypotonia
Muscle Atrophy
Proximal muscle weakness
Delayed crawling milestone/infant
Delayed walking milestone/child
Hyporeflexia/DTRs decreased
Neurologic manifestations/signs
Poor head control/infant
Truncal hypotonia
Distal Hyperlaxity
Limited spine motion/stiffness
Prominent Calcanie/Heel Bones
Prominent Heel congenital
Rigidity of back
Clinical Presentation & Variations
Early Childhood/Infancy Muscular Dystrophy
Nocturnal Hypoventilation
Disease Progression
Course/Progressive
Course/Progressive/slowly chronic illness
Onset/Age one
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Infant
Population/Neonate-newborn
Diagnostic Test Results
Other Tests & Procedures
PFT/Vital capacity decreased
Pathology
Fibroblast Culture Collagen VI Immunolabeling
BX/Muscle Biopsy Abnormal
BX/Muscle Biopsy Collagen VI Immunolabeling
BX/Muscle biopsy/centralization of nuclei
BX/Muscle biopsy/degeneration with regeneration fibers
BX/Muscle biopsy/Fiber atrophy
BX/Muscle Central Nuclei
BX/Muscle Endomysial Collagen/Encasement
BX/Muscle Merosin (Alpha-Laminin) Decreased
BX/Collagen gene mutation test abnormal
Electrodiagnosis
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Rule Outs
Ehlers-Danlos syndrome
Juvenile spinal muscle atrophy disease
Merosin Deficient Muscular Dystrophy
Walker Warburg Syndrome
Associated Disease & Complications
Arthrogryposis, multiplex, congenita
Congenital anomalies
Corpus callosum defect/agenesis
Hip dislocation, congenital
Joubert cerebellar vermis agenesis
Keloid
Lower respiratory infection
Scoliosis
Tendon contracture, Achilles
Ullrich Muscular Dystrophy
Torticollis
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
Pathophysiology
Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene locus chromosome 21
Pathophysiology/Gene Codes Type VI Collagen defect
Pathophysiology/Merosin Deficient Muscle
Pathophysiology/Abnormal collagen formation
Pathophysiology/COL6A1 Gene mutation
Pathophysiology/COL6A2 Gene mutation
Pathophysiology/COL6A3 Gene mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Muscular dystrophy disorder (ex)
Synonyms
Synonym
Synonym/Bethlem Myopathy, Synonym/Congenital Muscular Dystrophy
Treatment
Other Treatments
TX/Supportive/Symptomatic treatment
TX/Ventilation Assist IPPB
Definition
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External Links Related to Ullrich 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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