37701 to 37800 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Progressive Psychomotor Regression
• Infantile, Late-Infantile, Juvenile, and Adult Onset Reported
• Variable Severity Correlates with Age at Onset
• Activity of PPT1 Decreased
• Electroretinogram Reduced or Abolished
• Blindness by Age 2
• Granular Material in Neurons
• MRI Shows High Signal Intensity of the White Matter Later
• MRI Shows Hypointensity of the Thalami Early-On
• Death at 13 to 30 Years
• Onset at 4 to 7 Years
• Ultrastructurally Rectilinear Profiles
• Characteristic Findings on MRI
• Neurophysiologic Abnormalities
• Fever is Often the Presenting Symptom
• Episodic Severe Fever
• Lichenification of Palms
• Thick Calloused Skin
• Anhidrosis of the Trunk and Limbs 100% of the time
• Absent Axonal Flare Response to Intradermal Histamine Injection
• Delayed Wound Healing with Normal Immune System
• Normal Lacrimation
• Very Poor Corneal Healing
• Susceptibility to Rage in 50% of Patients
• Emotional Lability in 50% of Patients
• Hyperactivity in 50% of Patients
• Small Myelinated Nerve Fibers Decreased
• Small Unmyelinated Nerve Fibers Decreased
• Diffuse Temperature Insensitivity
• Diffuse Pain Insensitivity
• Possibly Predominant Liver Disease
• Death in the First Decade, Usually due to Liver Failure
• Pseudo-Acini
• Microvesicular Hepatic Steatosis
• Reye Syndrome-Like Episodes
• Motor Nerve Conduction Velocities Delayed
• Progressive Sensorimotor Neuropathy
• Progressive White Matter Lesions in the Brain
• Rapidly Progressive and Severe Sensory Loss
• Spasticity Is Slowly Progressive
• Plasma Total Cholesterol Decreased
• Plasma Triglycerides Decreased
• Plasma Apolipoprotein B Decreased
• Distal Ulceration and Osteomyelitis Leading to Autoamputation
• MRI Shows Atrophy of Spinal Cord
• See also: CMT2 with Giant Axons
• Curly Hair - Not a Consistent Finding
• Sensory and Motor Axonal Neuropathy
• Death by Age 3 Years
• Acid Sphingomyelinase Activity Decreased - Less than 5%
• Gray, Granular Maculae
• Cherry Red Maculae
• Spasticity (Later Symptom)
• Major Groups: Early-Infantile, Late-Infantile, Juvenile, Adult
• Caused by Mutation in the NPC1 Gene (NPC1)
• Fatal Liver Failure in Infancy (Occasional)
• Mutation in the BUB1B Gene
• >50% of Mitotic Cells Show PCS Affecting all Chromosomes
• Combined Immunodeficiency
• Propensity to Tumor Development
• Short, Wide Nose
• Prenatal and Postnatal Growth Retardation
• Low Postnatal Weight
• Posterior Fossa Malformations
• Cerebral Oligogyria
• Pachymacrogyria
• Hypoplastic Cerebrum
• Profound Developmental Delay
• Short Broad Feet
• Periumbilical Depression
• Sacral Segmentation Defect
• Widely Separated Labioscrotal Folds
• Genital Labial Hypoplasia
• Abnormal or Absent Scrotum
• Lipomyelocystoceles
• Pupillary Accommodation Decreased
• SANDO Is a Phenotypic Variant of Autosomal Recessive PEO
• Onset in Late Teens to Twenties
• Creatine Phosphokinase Mildly Elevated
• Myotonic Discharges
• Muscle Weakness - Upper and Lower Limbs
• Severe Mitochondrial Myopathy
• Sensory Nerve Action Potentials Decreased
• Distal Sensory Loss of Vibration and Proprioception
• Marked Delay in Epiphyseal Appearance
• Very Short Long Bones
• Medial and Lateral Spurs
• Extreme Platyspondyly
• Nuchal Edema
• Dwarfism - Identifiable at Birth
• Anterior and Posterior Rib Flaring
• No Nystagmus
• No Retinal Degeneration
• Visual Acuity for Distant Vision Ranges from 1/10 to 2/10 as Adult
• Dyschromatopsia with Red-Green Confusion
• Moderate Photophobia
• Isolated Optic Atrophy
• Subluxed Hand Joints
• Hearing Loss Sensorineural Progressive
• Mild Demyelination (Sural Nerve Biopsy)