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

Clinical
Demographics
Diagnostic
Diseases
Classification
Synonyms
Treatment
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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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