28901 to 29000 most common queries

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

• Cortical Dysplasia
• Simplified Cortical Gyration Pattern
• Possibly Death in Early Infancy
• Small, Turned-up Nose
• Poor Feeding in Early Life
• Muscle Weakness after Cooling or on Warming Affected Muscle
• Favorable Response to Minocycline or Azithromycin
• Mode of Inheritance is Unclear
• Onset in Teenage or Young Adult Years
• Squat Papillomatosis
• Epidermal Undulation
• Confluent, Centrally Erythematous (Later Brown) Papillomatosis
• Peripheral Reticular Papillomatosis, 1-2 mm, Growing and Coalescing
• Onset of Skin Changes in Childhood
• Caused by Mutation in the LEM Domain-Containing-Protein-3 Gene
• Collagen-Rich Connective Tissue Nevi
• Elastin-Rich Connective Tissue Nevi
• Subcutaneous Connective Tissue Nevi
• Subcutaneous, Non-Tender, Firm Nodules
• Mutation in the Collagen I Alpha 2 Polypeptide Gene
• Mutation in the COL1A1 Gene
• Opalescent Teeth
• Dentinogenesis Imperfecta
• Normal Teeth
• Tongue Weakness
• Highly Variable Severity of Muscle Weakness
• Other Muscles Become Involved about 5 Years after Onset
• Ptosis Is Usually Presenting Feature
• Mean Age at Onset 22 Years
• Recurrent Pneumonia due to Aspiration
• Restrictive Ventilatory Defect
• Weight Loss due to Dysphagia
• Creatine Kinase Normal or Increased
• Angulated Fibers
• Variation in Fiber Size Seen on Muscle Biopsy
• Myogenic Changes (EMG)
• Facial Muscle Atrophy
• One Patient with Severe Congenital Onset Reported
• Mutation in the SPTLC1 Gene
• Variable Motor Involvement
• Autonomic Involvement Is Variable
• Lower Limbs More Severely Affected than Upper Limbs
• Thickening of the Skull
• Ossification of the Falx Cerebri
• Subcortical White Matter Lesions in the Temporal Lobes (MRI)
• Mild Facial Muscle Weakness
• Allelic to Myosin Storage Myopathy
• Mutation in the MYH7 Gene
• Abnormalities in Myofibril Organization
• Cores or Minicores
• Sarcoplasmic Inclusions
• Fiber Type Grouping
• EMG Shows Myopathic or Neurogenic Changes
• Non-Progressive or Very Slow Progression
• Type 2 Muscle Fiber Predominance
• Hip Abductor Weakness and Atrophy
• Patellar Reflexes Decreased
• Difficulty Running and Climbing Stairs
• Disorder Usually Remains Stable over Time
• Pain or Cramping during Sustained Manual Activity
• Abnormal Corticospinal Tract Decussation
• Writing Fatigability
• Difficulties in Fine Bimanual Activities
• Involuntary Mirror Movements (Upper Limb, Hand)
• Thick, Everted Lower Lip
• Wide Mouth
• Open Mouth
• Large Prominent Nose
• Small Bulbous Nose
• Abnormality of the Ear
• Large Simple Ears
• Small Ears with Large Lobules
• Outer Ear Abnormalities
• Postnatal Growth Retardation
• Short Stature - Deletion Patients
• Sleep Abnormalities
• Segmental Distribution Often Affecting One Limb
• Sclerotic Soft Tissue Over Affected Bones
• Skin Atrophy Over Affected Bones
• Caused by Mutation in the GATA-Binding Protein-4 Gene
• Cardiac Valve Insufficiency
• Atrioventricular Septal Defect
• Pulmonary Valve Thickening or Stenosis
• Caused by Mutation in the Desmoglein 4 Gene (DSG4)
• Beard, Axillary and Pubic Hair Usually Normal
• Eyebrows and Eyelashes May Be Sparse
• Short Sparse Hair on Scalp
• Fragile Hair that Breaks Easily
• Trichoschisis
• Elliptical Nodes
• Marked Swelling of Precortical Region
• Hair Shafts Often Coiled Within Skin
• Abnormal Hair Follicles with Thin Atrophic Shafts
• Pruritus in Affected Areas
• Erythema in Affected Areas
• Marked Variability in the Deletion Size
• Straight Eyebrows
• Obesity - after Infancy
• Decreased Caveolin 3 Expression Seen on Muscle Biopsy
• Dystrophic Changes Seen on Skeletal Muscle Biopsy