40001 to 40100 most common queries

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

• 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
• Osteoarthritis - Back Hip Knee
• Final Adult Height: 131-156 cm
• Broad Thorax
• Lingual Pits (Maxillary Anterior Teeth)
• 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
• Spasmodic Eye Blinking
• Levodopa Responsive Parkinsonism
• Chorea Ballism
• Focal Tremor
• Short Webbed Neck
• Duane Syndrome
• Sensorineural, Conductive, or Mixed Hearing Loss
• Bilateral Striatal Lucencies on Imaging
• Bulbar Dysfunction
• Variable Age at Onset (Birth to Adulthood)
• Mitochondria with Paracrystalline Inclusions
• Abnormal Mitochondria with Disorganized and Vacuolated Cristae
• Muscle Shows Lipid Accumulation
• Activity of Complex I and Complex IV Decreased
• Weakness of Orbicularis Oculi Muscles
• 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+)
• Interictal Periods of Normal Health
• Rapid Complete Resolution of Symptoms
• Peak Frequency of Vomiting: Every 10 to 15 Minutes
• 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
• Circumpapillary Telangiectatic Microangiopathy
• Central Retinal Vessel Vascular Tortuosity
• Centrocecal Scotoma
• Spastic Dystonia
• 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
• Sluggish Pupils
• Early Salt and Pepper Retinopathy
• 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
• Refractory Insomnia
• Good Response to Vitamin D Treatment
• 1,25-Dihydroxyvitamin D3 Normal
• Calcium Low to Normal
• Enlargement of Ankles
• Enlargement of the Wrists
• Metaphyseal Fraying
• Deformed Rib Cage
• Enlargement and Bulging of the Costochondral Junction
• High Frequency of Levodopa-Induced Dyskinesias
• Symptoms Improve Following Sleep
• Caused by Mutations in the Parkin Gene (PARK2)
• No Lewy Bodies
• Neuronal Loss in the Locus Ceruleus
• Neuronal Loss and Gliosis in the Substantia Nigra Pars Compacta
• No Dementia
• Diurnal Fluctuations of Symptoms