36101 to 36200 most common queries

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

• Muscle Biopsy Shows Decreased Caveolin-3 Expression
• Treatment with Betaine Especially for Pyridoxine Nonresponders
• Warm Weather and Alcohol Are Alleviating Factors
• Coagulation Defect due to Decreased Liver Function
• One Consanguineous Turkish Family Reported (as of June 2014)
• S-Scoliosis of Thoracic Spine
• Autoamputation due to Acral Ulceration and Osteomyelitis
• Spasticity Has Been Reported in 1 Family
• Clitoral Hypoplasia or Aplasia
• Normal LAMP2 Staining
• Posterior Subcapsular Cataract
• Short Stature (5th-10th Percentile)
• Cardiomyopathy May Develop Later in the Disease
• Mutation in the CBS Gene
• Prevalence in Northern Finland Increased
• Hypertonia Type 2
• Possibly 'Visual Variant'
• Skin Rash of the Upper Arms
• Cold Temperatures Exacerbate Symptoms
• Complex III Activity in Liver Tissue Decreased
• Increased Risk of Medulloblastoma
• Oligozoospermia
• Painless Fractures due to Injury
• Diabetes Mellitus Type 2
• Lysosomal Glycogen Increased
• Mutation in the Skeletal Muscle Chloride Channel 1 Gene
• Based on Report of 2 Sibs in 2008
• Relative Sparing of Index Finger
• Optic Disc Pallor in Fourth Decade of Life
• Normal Pubertal Development and Fertility in Males
• Episodic Throat Swelling
• Onset in Late Twenties to Thirties
• Neonatal or Infantile Metabolic Ketoacidosis
• Fibrosis On Biopsy
• Submucous Cleft Palate
• Handgrip Myotonia
• Normal Testosterone Level
• Mild Reduction in Unmyelinated Fibers
• Liver Function Tests Abnormal
• Progression More Frequent in Men than Women
• EMG Shows Spontaneous Repetitive Electrical Activity
• Relative Sparing of Upper Extremities
• Normal or Near-Normal Fetal Movements
• Pigmentation in Retinal Periphery
• Affected Females Are Infertile
• Neonatal Hypotonia - Muscle Biopsy Shows PAS-Positive Vacuoles
• Mut 0: Mutase Activity Undetectable due to No Functional Mutase
• Prominent Philtral Groove
• May be Exacerbated by Febrile Illness
• Normal Large Myelinated Fiber - Sensory Modalities
• Cortical and Subcortical Regions Involved
• Central Tongue Atrophy
• Nerve Conduction Velocities Decreased (30%)
• Itch Pain and Often Body Malodor
• Hematuria May Become Apparent after Respiratory Infections
• Dilated Renal Pelvis
• Myotonia Improves with Continued Activity
• Onset of Deafness in Early Childhood
• Bilateral Humeral Fractures
• Visual Acuity in Fourth Decade of Life Decreased
• Plasma Free and Total Carnitine Low
• Impulsivity
• Small Birth Length
• One Patient Has Been Reported - Last Curated June 2014
• Adult Onset - 37 to 57 Years
• Distal Temperature Insensitivity in Some Patients
• Hyperlaxity
• Pseudoexophthalmos
• Optic Ataxia
• Mutation in the Complement Factor H Related Protein 5 Gene
• Acral Hemorrhagic Variant
• Iron Deposition in the Basal Ganglia Increased
• Myotonia is most Pronounced in the Extremities
• No Ovaries
• Night Blindness with Onset in 1st-2nd Decade of Life
• Parotid Swelling
• Slight Ankle Varus Deformity
• Mutation in the LYRM7 Gene
• Mutations in the FLNC Gene
• Severe Involvement of Globus Pallidus
• Distal Pain Insensitivity
• Small Cavum Septum
• Fetal Movements Diminished
• Muscle Tone at Birth Increased
• Age of Onset 6-20 Years
• Segmental Capillary Wall Thickening
• Death Usually in Teenage Years
• Irregular Femoral Epiphyses
• Contiguous Gene Deletion of 12 Mb Encompassing 47 Genes on 1p32-p31
• Absence of Germ Cells
• Mutation in the SRY-Box 18 Gene
• Italian
• Nemaline Rod Formation
• Isolated Mitochondrial Complex III Deficiency (Muscle Biopsy)
• Mutation in the GCLC Gene
• Onset at Age 15-33 Years
• Ketosis Is Exacerbated by Protein Ingestion
• Decreased Muscle Mass (Especially in Lower Extremities)
• Late Potentials in the Absence of QRS Duration Greater than 110 ms
• Enlarged White Matter