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37601 to 37700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Free Carnitine Elevated
Plasma Total Carnitine Normal to Elevated
No Ketonuria
No Dicarboxylic Aciduria
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
Difficulty Running or Inability to Run
Limb Girdle and Proximal Muscle Atrophy
Creatine Kinase Normal
Infantile Myopia
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
Fragmentation of Femoral Epiphyses
Long Eyelashes In Irregular Rows
Sad Fixed Facies
Small Toenails
Short 3rd Metacarpals
Broad Distal Phalanx of Finger
Prominent Columella
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
Brainstem Abnormalities
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
Poorly Mineralized Bones
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