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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)