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37501 to 37600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Phenotypic Overlap with Denys Drash Syndrome
Mutations in the WT1 Gene
Majority of Patients Have Normal Intelligence
Notched Alae Nasi
Accessory Nasal Tag
Broad Notched Nasal Tip
Variable Bifid Nose
Cranium Bifidum Occultum (Defect in Midline of Frontal Bone)
Aplasia or Hypoplasia of Pectoral Muscle (Poland Syndrome)
Wheelchair Use by 10-30 Years
Prevalent in North Africa
Onset 1-12 Years
Mutation in the SGCG Gene
Abnormal Precordial Tall R Waves
Possibly Subclinical Cardiac Involvement
Normal Dystrophin Immunostaining
Absence of Gamma-Sarcoglycan Protein
Patchy Muscle Fiber Degeneration
Muscle Biopsy Shows Dystrophic Pattern
Loss of Independent Ambulation around Age 12 Years
Pyramidal Tract Hypoplasia
Low Density White Matter on CT Scan
Focal Interhemispheric Fusion
Leptomeningeal Thickening
Possibly Heterozygous Mutations and Dominant Negative Effect
Creatine Kinase Normal to Mildly Increased
Calcaneal Protrusion
Laxity of Ankles Increased
Hyperextensibility of Wrists
Long Thin Limbs
Proximal Joint Contractures
Endo and Perimysial Connective Tissue Increased
Absence of Collagen VI Immunostaining
Muscle Biopsy Shows Merosin-Positive Muscle Fibers
Some Patients Never Achieve Ambulation
Ambulation Delayed
Muscle Weakness - Proximal Greater than Distal
Reflexes Due to Muscle Weakness Decreased or Absent
High Frequency in Hutterite Population
Small, Membrane-Bound Vacuoles Predominantly in Type 2 Fibers
Atrophic Fibers
Increased Echo Intensity in Affected Muscles
Exercise-Induced Weakness
'Flat Smile'
Allelic to Limb-Girdle Muscular Dystrophy Type 2B
Age at Onset: 15-25 Years
Caused by Mutation in the Dysferlin Gene (DYS 603009-0001)
Fibrillations in Affected Muscles
Dysferlin Staining Decreased or Absent (Muscle Biopsy)
Muscle Biopsy May Show Inflammatory Changes
Sparing of Small Hand and Finger Muscles
Mild Muscle Atrophy In Forearm Muscles
Muscle Weakness in Forearm Muscles
Sparing of Anterior Tibialis Muscle
Gastrocnemius and Soleus Muscles Most Affected
Muscle Wasting in Lower Limbs
Difficulty Rising from a Squatting Position
Heel Standing Preserved
Difficulty in Toe Walking
Electron Microscopy Shows Decreased Size of Synaptic Vesicles
Defect in Resynthesis and Packaging of Acetylcholine
Quantal Content Declines with Activity
Absence of Ophthalmoparesis
Absence of Ptosis
Increased Jitter Seen on Single Fiber EMG
Majority of Individuals Are Healthy
Mutations in the Myeloperoxidase Gene
Myeloperoxidase Activity in Neutrophils and Monocytes Decreased
Eosinophil Peroxidase Activity Normal
Absence of Peroxidase Staining in Neutrophils and Monocytes
Low Leukocyte Alkaline Phosphatase
Rapidly Progressive Disorder
Short Survival
Onset in Late Childhood or Adolescence
Disorganized EEG
Focal to Bilateral Tonic-Clonic Seizure
High Frequency in Finnish Population
Onset at Age 6-13 Years
Mild Mental Deterioration
Action Myoclonus Triggered by Voluntary Movements
Alpha-Abolished Continuous Spikes - Intense Myoclonus on Photic Stimulation
Alpha Slowing - 4-6 Hz Spikes - Myoclonus on Photic Stimulation Stage 2
Intermittent Wheelchair Dependence
Minor Motor Impairment
Stimulation Sensitive Generalized Myoclonus
Stimulation-Sensitive Segmental Myoclonus (Stage 2)
Polyspike on Photic Stimulation
Visual Blackouts (Stage 1)
See Also the Lethal Neonatal and Infantile Forms
Heterozygous CPT2 Mutation Carriers Possibly Symptomatic
Triggered by Exercise Fasting or other Metabolic Stresses
Onset in Adolescence or Adulthood
Mutations in the CPT2 Gene
Plasma and Tissue Carnitine Normal
Creatine Kinase Normal between Episodes
Carnitine Palmitoyltransferase II Deficiency
Precipitated by Infection, Fasting or Intercurrent Illness
Onset at Age <30 Months
Long Chain Fatty Acid Oxidation Decreased
CPT1 Activity Decreased