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Disease Comparison Results (show all mode) for Familial short stature/status and Segawa Syndrome/Infant Parkinsonism

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
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Found: 96 | Differences: 93

Found: 10 | Differences: 7

Familial short stature/status and Segawa Syndrome/Infant Parkinsonism sharing 3 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Adolescent; Facies particular; Mask-like facies; Rigidity/Muscle/movement; Drooling; Cramping in Extremities; Muscle spasticity; Muscle stiffness/rigidity; Pain in Extremities/Melalgias; Scissor legs posture/gait; Stiff muscles/spasms legs/feet; Stiffness; Toe walking; Ataxia; Bradykinesia; Clonus/bilateral ankle (sustained); Delayed walking milestone/child; Development Motor Skills (Milestones) Delayed; Dorsiflexion Great Toe Position; Dystonia; Dystonia Worse in Evening; Dystonia, acquired; Dystonic Posturing; Equinus Posture/Ankles; Gait disturbance/abnormality; Postural lability/easy to push over; Postural tremor/resisting gravity; Progressive neurological disorder/signs; Slow Motor Development; Spasms in Both Legs; Spasms in Neck; Spasticity/Spastic gait; Staggering Gait; Unable to walk; Short stature; Short stature Child; Walking difficulties
Typical Clinical Presentation: Presentation/Progressive Neurologic disorder Infants
Disease Progression: Course/Diurnal effect/onset; Course/Progressive; Onset/Childhood

Demographics & Risk Factors
Ethnic or Racial Factors: Japanese population/ethnic stock
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Adolescent; Population/Child; Population/Female; Population/Girl patient

Laboratory Tests
Abnormal Lab Findings (Non Measured): Phenylalanine Loading Test/Abnormal
Abnormal Lab Findings - Decreased: CSF Biopterin; CSF Neopterin
Abnormal Lab Findings - Increased: Phenylalanine (Lab); CSF Homocystine elevated

Diagnostic Test Results
Other Tests & Procedures: TEST/Sleep Study Less Twitch on REM
CT Scan: MRI/Head Brain Abnormal; MRI/Head lesions basal ganglia; MRI/Head Scan Abnormal; PET Scan/Head Normal; SPECT Scan/Head Normal

Associated Diseases & Rule outs
Associated Disease & Complications: Parkinsonism, secondary; Ataxia Disorder; Primary Dystonia; Segawa Syndrome/Infantile Parkinsonism

Disease Mechanism & Classification
Class: CLASS/Basal ganglia lesion/involvement/disorders (ex); CLASS/Neurologic (category)
Pathophysiology: Pathophysiology/Gene locus chromosome 14; Pathophysiology/Gene locus Chromosome 14q; Pathophysiology/Deficient GTP cyclohydrolase I/CNS; Pathophysiology/Deficient GTP in CNS; Pathophysiology/Phenylalanine accumulates CNS; Pathophysiology/Deficient Tetrahydro Biopterin CNS/BH4; Pathophysiology/Gene locus 14q21.1-22.2; Pathophysiology/GTP gene mutation; Pathophysiology/Sepiapterin Reductase Gene Mutation; Pathophysiology/Tyrosine Hydroxylase TH Gene Mutation
Process: PROCESS/Autosomal Recessive Incomplete Penetrance; PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Autosomal recessive disorder (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditary developmental disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Variant expressions/Subsets (ex); PROCESS/Hereditary ataxia disorder (ex)

Synonyms
Synonym: Synonym/Diurnal Juvenile Dystonia; Synonym/Dopamine Responsive Dystonia (DRD); Synonym/GTP Cyclohydrolase 1 (GTPCH) Deficiency; Synonym/Hereditary Progressive Dystonia (HPD)

Treatment
Drug Therapy: RX/Levodopa (Dopar)

Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Children/all

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Turner syndrome

Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Gene locus Chromosome Y; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus Yq5-18; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

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