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

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Segawa Syndrome/Infant Parkinsonism

Found: 96 | Differences: 93

Familial short stature/status

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
Sex & Age Groups
Population/Adolescent
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
Sex & Age Groups
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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