Sitemap | Symptoma 24001 to 24100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Thenar Eminence Hypoplasia Reduction of Voluntary Recruitment (EMG) Atrophy of the Motor Cortex in Older Patients (MRI) Bulbar Involvement Loss of Motor Milestones Upper and Lower Motor Neuron Degeneration Mutation in the Otoancorin Gene Diagnosis Typically between Age 10 - 20 Years Lumbar and Sacral Spondylolisthesis Mild Dysostosis Multiplex Treatment with Enzyme Replacement Therapy Onset of Symptoms between 3 and 8 Years of Age Mild Pulmonary Hypertension Thickening of the Mitral Valve Leaflets Hypertrophic Tonsils Nasopharyngeal Obstruction Progressive Lumbar Gibbus Pachymeningitis Cervicalis and Spinal Cord Compression Distinction of MPS1 Types: Age at Onset, Progression, Mutation(s) Alpha-L-Iduronidase Activity is < 1% for All Forms of MPS1 Mutation in the Alpha L Iduronidase Gene Thickened Coronary Arteries Thickened Mainstem Bronchi Vocal Cords Enlarged Enlarged Pharyngeal Tonsils Excretion of Dermatan Sulfate and Heparan Sulfate in Urine Bullet Shaped Phalanges Premature Closure of the Sagittal Suture Premature Closure of the Metopic Suture Short Thick Irregular Clavicles Developmental Delay Evident by 12-24 Months of Age High Incidence among Old Order Amish Dramatic Improvement with Proper Treatment Gradually Development of Tolerance to Carbohydrates May Be Lethal if Untreated Diarrhea Persists Even with Vigorous Nursing Caused by Mutation in the Dysferlin Gene Biopsy Shows Myopathy without Vacuoles Abnormally-Shaped Posterior Part of Sperm Head Spermatozoa with Coiled Tails Flagellar Defects Mutation in the CAV1 Gene Mutation in the GRHL3 Gene Uvular Anomaly Mutation in the CARD11 Gene Relative T-Cell Anergy Normal Titers to T Cell Dependent Vaccines Defective Antibody Production against Polysaccharide Based Vaccines Bone Marrow Shows Lymphoid Hyperplasia Polyclonal B Cell Lymphocytosis Susceptibility to Chronic Lymphocytic B Cell Leukemia Mild Distal Muscle Atrophy Distal Touch Sense Decreased Distal Proprioception Decreased Dystonic Hand Posturing Basaloid Follicular Hamartomas Multiple Papules - 1-2 mm, Skin-Colored and Hyperpigmented Multiple Papules (Milium-Like, Comedo-Like) Distal Limb Atrophy - Upper and Lower Cerebral Artery Amyloidosis Described in Individuals of Roma Gypsy Origin Proximal Lower Limb Muscle Weakness Later Nerve Conduction Velocities Reduced (Demyelinating Range) Distal Sensory Loss Respiratory Failure due to Neuropathy Possibly Arthrogryposis Multiplex Congenita Mutation in the ANGPTL3 Gene Marked Hypobetalipoproteinemia Apolipoprotein Low HDL Cholesterol Low to Very Low Mutation in the NDE1 Gene Scalp Rugae Atrophic Optic Fundi Severe Progressive Microcephaly Supratentorial Structures Unformed or Regressed Poor Delineation of Cerebral Cortical Regions Mutation in the CDK5RAP2 Gene Conical-Shaped Teeth Infrequent Tonic Clonic Seizures Partial Absence of the Corpus Callosum Small Frontal Lobes Simplified Gyral Pattern Early Respiratory Failure Deep Skin Ulcers Localized Cutaneous Necrobiosis Lipoidica Fatty Replacement in Muscles (Hip and Proximal Lower Limb) Males More Severely Affected Sudden Cardiac Death Frequent in Affected Families Mutation in the Transmembrane Protein 43 Gene Severe Right Ventricular Atrophy with Fibrofatty Replacement Biventricular Dilation Fractional Shortening <25% Right Ventricular Dilation Global or Focal Dyskinesia QRS Greater than 110 ms Presyncope or Syncope Variable Age at Onset - Range Infancy to Adulthood Mutation in the DEPDC Gene Abnormal Interictal EEG Focal or Multifocal Onset Seizure
