Disease Comparison Results (show all mode) for Allgrove Syndrome and Ullrich Muscular Dystrophy

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Ullrich Muscular Dystrophy

Found: 79 | Differences: 77

Allgrove Syndrome

Found: 18 | Differences: 16

Allgrove Syndrome and Ullrich Muscular Dystrophy sharing 2 common findings. (show all, show common, show differences)

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
Associated Disease & Complications - Rule Outs
Ehlers-Danlos syndrome
Juvenile spinal muscle atrophy disease
Merosin Deficient Muscular Dystrophy
Walker Warburg Syndrome
Associated Disease & Complications - Causes
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
Clinical Manifestations
Signs & Symptoms
Absence of tears/on exam
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Achalasia syndrome
Dysautonomia, familial
Associated Disease & Complications - Causes
Achalasia syndrome
Alacrimal
Autonomic neuropathy
Disease Mechanism & Classification
Class
CLASS/Intestinal/stomach/gut (category)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 12q13
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus chromosome 12q
Pathophysiology/Inhibitory Myenteric Neurons lost
Pathophysiology/AcetyCholine Insensitive
Pathophysiology/Autonomic nervous system involvement
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
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