31901 to 32000 most common queries

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

• Long Chain Fatty Acid Oxidation Decreased
• CPT1 Activity Decreased
• Carnitine Palmitoyltransferase I Deficiency
• Plasma Total Carnitine Normal to Elevated
• No Ketonuria
• Recurrent Encephalopathy
• No Staining for Periodic Acid Schiff
• No Staining for Oxidative Enzymes
• Positive Staining for Slow Myosin Heavy Chain
• Subsarcolemmal Hyaline Bodies in Type I Fibers (25-30%)
• Muscle Biopsy Shows Type I Fiber Predominance
• Onset Usually at Birth
• Onset in Neonatal Period or Early Infancy
• Mutation in the RYR1 Gene
• Minicores Extend Full Fiber Diameter
• Type 1 Fiber Atrophy
• Central Nucleation Increased
• Disorganization of the Myofibrillar Pattern
• Muscle Biopsy Shows Focal Loss of Cross Striations
• Walking May be Limited
• Limb Girdle and Proximal Muscle Atrophy
• Creatine Kinase Normal
• Prevalence in Northern Finland Increased
• Mutation in the Skeletal Muscle Chloride Channel 1 Gene
• EMG Shows Spontaneous Repetitive Electrical Activity
• Myotonia Improves with Continued Activity
• Myotonia is most Pronounced in the Extremities
• Irregular Femoral Epiphyses
• Short Vertebrae
• Progressive Impairment of Gait
• Difficult Intubation and Risk of Malignant Hyperthermia
• Contractures Most Severe by Midadolescence
• Progressive Disease with Onset in Infancy
• Small, High-Pitched Voice
• EMG - Repetitive Muscle Discharges
• Elbow Knee Shoulder Contractures
• Anterior Bowing of Long Bones
• Slender Diaphysis
• Long Eyelashes In Irregular Rows
• Sad Fixed Facies
• Mental Retardation (25%)
• Small Toenails
• Broad Distal Phalanx of Finger
• See Also French-Canadian Type of Leigh Syndrome
• Clinical Heterogeneity
• Progressive Disorder with Rapid, Relentless Course
• Mutation in the Cytochrome C Oxidase Subunit 15 Gene
• Mutation in the NDUFS8 Gene
• Mutation in the NDUFS7 Gene
• Mutation in the NDUFS1 Gene
• Mutation in the NDUFV3 Gene
• Mutation in the Mitochondrial tRNA Lysine Gene
• Mutation in the NADH Dehydrogenase Subunit 5 Gene
• Mutation in the ATP Synthase 6 Gene
• Death at Birth or Within First 2 Years of Life
• Many Adults with Typical Form Remain Ambulatory
• Slowly Progressive or Non-Progressive Course
• Variable Severity Ranging from 'Typical' to 'Severe' Disease
• Mutation in the NEB Gene
• Scoliosis (Onset around Puberty)
• Joint Deformities (May Develop Over Time)
• Absence of Spontaneous Activity at Birth
• Increased Fatty Infiltration
• Muscle Density on Imaging Decreased
• Nemaline Bodies Are Rarely Intranuclear
• Nemaline Bodies Are Usually Subsarcolemmal or Sarcoplasmic
• Proximal Limb Muscle Weakness Initially
• Extraocular Muscles Are Not Involved
• Fine Motor Activity Normal
• Slow Gross Motor Activity
• Failure to Achieve Sitting or Walking
• Lacunar Halos Around Chondrocytes in Skeletal Cartilage
• Hypoplastic Rounded Middle Phalanges
• Abducted Thumbs and Great Toes
• Short Dumbbell Femur
• Bifid Distal Humerus
• Vertebral Body Coronal Clefts
• Stillborn or Death Shortly after Birth
• Focal Adenomatous Hyperplasia of Beta Cells
• Possibly Diabetes Later in Life
• Insulin Deficiency May Develop Later in Life
• Trichorrhexis Invaginata - 'Bamboo Hair'
• Sparse Brittle Scalp Hair
• Enteropathy with Villous Atrophy
• Generalized Tissue Edema
• Puffiness of Feet
• Puffiness of Hands
• Round, Gaping Mouth
• Absence of Olfactory Bulbs
• Death Usually by Age 10 Years
• Thin Optic Chiasm
• Axonal 'Spheroid' Inclusions
• Axonal Swelling or Thickening
• Neuronal Loss in Central Nervous System
• Possibly Autonomic Involvement
• 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