34001 to 34100 most common queries

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

• Severe Lactic Acidosis
• A Subset of Patients Improve with Thiamine
• Facial Dysmorphism (35%)
• Two Main Phenotypes - Metabolic and Neurologic
• Activity of Pyruvate Decarboxylase Decreased
• Activity of the Pyruvate Dehydrogenase Complex Decreased
• Incresased Urinary Pyruvate
• Urine Lactate Increased
• Blood Alanine Increased
• Cerebrospinal Fluid Pyruvic Acid Increased
• Oligospermia or Azoospermia
• Normal 46,XY Karyotype
• High FSH Secondary to Androgen Insensitivity
• Partial Deficiency of Cytoplasmic DHT Binding
• May Not Be Clinically Manifest until Middle Life
• Electroretinogram Shows a Reduced B Wave in Most Cases
• De Novo Mutations Almost Exclusively on the Paternal X Chromosome
• Stage IV: Late Motor Deterioration, Ambulation Ceases
• Stage 3 - Pseudostationary Period
• Stage 2 - Rapid Developmental Regression
• Hand Stereotypies
• Cortical Atrophy (Frontal Area)
• Reduction or Loss of Acquired Skills
• Slow Waking Background - Intermittent Rhythmical Slowing (3-5 Hz) - Epileptiform Discharges
• Normal Development until Age 6-18 Months
• Abnormally Shaped Vertebrae
• Craniosynostosis - Lambdoid and Coronal Sutures
• High, Broad Nasal Root
• Small, Pointed Nose
• Mutations in the Interleukin 2 Receptor Gamma Chain Gene
• Number of CD8+ T Cells Decreased
• Normal Number of Natural Killer Cells
• Paucity of Lymphoid Tissue
• Arthralgia in Middle-Aged Carrier Females
• Mild Epiphyseal Irregularities
• Hypoplasia of Capital Femoral Epiphyses
• Final Adult Height: 131-156 cm
• Mutation in the WAS Gene
• Transient Eczema
• Mean Platelet Volume Decreased
• Intermittent Thrombocytopenia
• Women May Be Mildly Affected
• Symptoms Begin Focally, Later Segmental or Generalized
• Described Mainly in Families from the Philippines
• Onset in Fourth Decade
• Levodopa Responsive Parkinsonism
• Chorea Ballism
• Klippel-Feil Anomaly
• Duane Syndrome
• Sensorineural, Conductive, or Mixed Hearing Loss
• Bilateral Striatal Lucencies on Imaging
• Variable Age at Onset (Birth to Adulthood)
• Abnormal Mitochondria with Disorganized and Vacuolated Cristae
• Muscle Shows Lipid Accumulation
• Activity of Complex I and Complex IV Decreased
• Lesions In The Caudate and Putamen
• Mean Age at Resolution of Symptoms Is 10 Years
• Mean Age at Onset 5 Years
• Cardiomyopathy (CVS+)
• Exercise Intolerance (CVS+)
• Strabismus (CVS+)
• Gastrointestinal Dysmotility
• Pervasive Developmental Disorder (CVS+)
• Attention Deficit Hyperactivity Disorder (CVS+)
• Migraine Headaches (CVS+)
• Interictal Periods of Normal Health
• Rapid Complete Resolution of Symptoms
• Usually during the Night or Early Morning
• Rapid Onset
• Some Pedigrees Are Consistent with Autosomal Dominant Inheritance
• Single Mitochondrial DNA Deletions in Sporadic KSS Patients
• Onset at Age <20
• Serum and Muscle Coenzyme Q Decreased
• Cerebrospinal Fluid Folic Acid Decreased
• Diffuse Signal Abnormality of Central White Matter
• Onset at 1-70 Years of Age
• Mutation in the MTAP6 Gene
• Mutation in the Cytochrome C Oxidase III Gene
• Mutation in the MTCO1 Gene
• Mutation in the Complex I Subunit ND5 Gene
• Mutation in the MTND4L Gene
• Mutation in the MTND4 Gene
• Caused by Mutation in the Complex I Subunit ND1 Gene
• Nonspecific Myopathy
• Optic Atrophy - Chronic Phase
• Swelling of Retinal Nerve Fiber Layer in Acute Phase
• Multiple Sclerosis-Like Illness
• Caused by Mutations in the Mitochondrial ATP Synthase 6 Gene
• Muscle Mitochondria Normal by Histochemical Analysis
• No Histochemical Evidence of Mitochondrial Myopathy
• Death within 12 Months
• Rapid Progression
• Mutation in the Prion Protein Gene
• Brainstem May Show Neuronal Loss
• Thalamic Neuronal Loss especially in the Medial Dorsal Nucleus
• Dream Enactment
• Progressive Sleep Impairment
• Good Response to Vitamin D Treatment
• 1,25-Dihydroxyvitamin D3 Normal
• Calcium Low to Normal