34501 to 34600 most common queries

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

• Absence of Exophthalmos
• Usually Requires Total Thyroidectomy
• Age at Onset Ranges from Neonatal to Adulthood
• Absence of Pretibial Myxedema
• Absence of Dermopathy
• Free Thyroid Hormones Increased
• Absence of Anti-Thyroid Antibodies
• Absence of Immune Complexes and Lymphocytes in Thyroid Tissue
• Distinct Disorder from Parkinson Disease
• Onset 30-40 Years of Age
• Symmetric Lesions of the Basal Ganglia
• No Response to L-Dopa Treatment
• No Tremor
• Hypoplastic Metatarsals
• Prominent Trochanter
• Narrow Short Femoral Neck
• Irregular Sclerotic Acetabula
• Rectangular Lumbar Spinal Canal
• Internal Auditory Canal Hypoplasia
• Short Distal Phalanges - Toes 2-4
• Bone Erosions (5th Finger)
• Pointed Phalanx (5th Finger)
• Short Distal Phalanx - 5th Finger
• Bicuspid Pulmonary Valve
• Velvety Texture
• Plasma Renin Normal
• Plasma Cortisol Low
• Plasma Adrenocorticotropic Hormone Elevated
• Caused by Mutations in the Myotilin Gene
• Phagocytic Vacuoles with Degraded Membranous Material
• Increased Staining for Myotilin Dystrophin Desmin
• Congophilic Staining
• EMG Shows Myopathic and Neurogenic Changes
• Muscle Stiffness or Aching
• Proximal Muscle Involvement May Occur
• Progressive Distal Muscle Weakness
• Subscalp Nodule (1.5-4 cm)
• Atretic Occipital Cephalocele
• Head Circumference Large for Gestational Age
• Bony Defect with Cephalocele
• Normal Neurologic Development in Most Cases
• Short Trunk - Short Stature < 3rd - 50th Percentile
• Flattened Capital Femoral Epiphyses
• Caused by Mutation in the Melanophilin Gene
• Mutation in the MYO5A Gene
• Large Clumps of Pigment Irregularly Distributed Along Hair Shaft
• Silver-Gray Eyebrows
• Silver-Gray Eyelashes
• No Immunologic Abnormalities
• Type 1 Has Most Severe Manifestations by Age 4-5 Years
• Type 1: Onset at 8-15 Months of Age after Normal Development
• Type 3: Intermediate Form
• Kanzaki Disease Type 2 Is Adult Onset
• Type 1 Is Infantile-Onset, Severe
• Alpha-N-Acetylgalactosaminidase Activity Decreased to <2%
• Decreased alpha-N-acetylgalactosamine Protein
• Lack of Lysosomal Inclusions in Visceral Organs
• 'Spheroid' Inclusions in Axons
• Atrophy of Cerebellum, Brain Stem, Cervical Spinal Cord
• No Voluntary Movement
• Rapid Regression
• Development after 8-15 Months Delayed
• Normal Early Development up to 8 to 15 Months of Age
• Nasal Tip Enlarged
• Conjunctiva Shows Dilated Blood Vessels
• Allelic Disorder to Schindler Disease
• Mutation in the Alpha-N-Acetylgalactosaminidase Gene
• Urine O-Linked Sialopeptides Increased
• Glycoamino Aciduria
• Alpha-N-Acetylgalactosaminidase Activity Decreased or Absent
• α-N-Acetylgalactosaminidase Protein Decreased or Absent
• Decreased Density of Myelinated Fibers and Axonal Degeneration
• Distal Sensory Loss (all Modalities)
• MRI May Show Atrophy of the Cerebrum
• Seizures Remit by Age 5 Years
• Onset at Age 3 Months to 5 Years
• Seizures Recur in 33% of Patients
• Seizures Usually Last 1 to 5 Minutes
• For Autosomal Recessive Forms See CMT2B1 and CMT2B2
• May Progress to Upper Limbs
• Caused by Mutation in the Mitofusin 2 Gene
• Decreased Number of Myelinated Fibers May Be Found
• Small 'Onion Bulbs' May Be Present
• Nerve Biopsy Shows Axonal Degeneration and Regeneration
• Axonal Atrophy On Nerve Biopsy
• Motor Nerve Conduction Velocity Normal or Mildly Decreased
• Increased Muscle Tone
• Predominant Loss of Pain and Temperature Sensation
• Clumsiness in Childhood
• Sensorineural Hearing Loss Has Been Reported
• SLC25A4 Mutations Account for Approximately 4% of all PEO Cases
• Generalized Muscle Weakness
• Lactate Usually Normal
• Variable Clinical Severity
• Caused by Mutation in the Tropomyosin-3 Gene
• Both Type 1 and Type 2 Fiber Predominance Has Been Reported
• Nemaline Bodies in Type 1 Fibers
• Lower Leg Amyotrophy
• Delayed Motor Development due to Muscle Weakness
• Muscle Biopsy Shows Multiple Mitochondrial DNA Deletions