Keyword Analysis & Research: angelman
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Genetics Program at Johns Hopkins All Children's
https://www.hopkinsmedicine.org/all-childrens-hospital/services/genetics
WEBPrader-Willi and Angelman syndromes; Primary mitochondrial diseases; Skeletal dysplasias; Tuberous sclerosis; Turner syndrome; Urea cycle disorders; Williams syndrome; 22q11.2 deletion and duplication syndromes; Visiting our Practice. Patients are seen by referral only and must be accompanied by a parent or legal guardian during office visits.
DA: 85 PA: 48 MOZ Rank: 28
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Landau-Kleffner Syndrome | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/landaukleffner-syndrome
WEBWhat is Landau-Kleffner syndrome? Landau-Kleffner syndrome is a rare language disorder. It often happens in normally developing children, usually between 5 and 7 years of age, and is characterized by the slow or sudden loss of the ability to use or understand spoken language. What are the signs of Landau-Kleffner syndrome?
DA: 35 PA: 49 MOZ Rank: 67
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Seth Margolis Laboratory | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/research/labs/s/seth-margolis-laboratory
WEBWe use Ephexin5 to study the molecular pathways that regulate restriction of excitatory synapse formation and their relevance to the pathophysiology of Angelman syndrome. Research Areas Angelman syndrome
DA: 95 PA: 34 MOZ Rank: 14
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Moebius Syndrome | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/moebius-syndrome
WEBMoebius syndrome is a rare congenital (present at birth) condition that results from underdevelopment of the facial nerves that control some of the eye movements and facial expressions. The condition can also affect the nerves responsible for speech, chewing and swallowing. What You Need to Know.
DA: 90 PA: 88 MOZ Rank: 75
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Chiari Malformation Type I | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/chiari-malformation-type-i
WEBIt is caused by excess leaking of spinal fluid from the lower back (lumbar) or chest (thoracic) areas of the spine. This can happen because of an injury, contact with harmful substances, or an infection. The Chiari Malformation: What's New?
DA: 64 PA: 76 MOZ Rank: 78
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Spinal Muscular Atrophy (SMA) | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/spinal-muscular-atrophy-sma
WEBWhat You Need to Know. Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord. Because the muscles cannot respond to signals from the nerves, they atrophy — weaken and shrink — from inactivity. One in every 6,000 babies is born with SMA.
DA: 3 PA: 32 MOZ Rank: 55
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Cleidocranial Dysplasia (CCD) | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd
WEBA wide, flat or protruding forehead, sometimes with a vertical groove down the center. A low, wide nasal bridge. Wide-set eyes. Small midface and lower jaw. High-arched hard palate or cleft palate. Small or absent sinuses, resulting in sinusitis. Ear problems, including ear infections and sometimes hearing loss. Teeth.
DA: 51 PA: 12 MOZ Rank: 81
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Glycogen Storage Disease | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/glycogen-storage-disease
WEBGlycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose.
DA: 86 PA: 38 MOZ Rank: 20
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Status Epilepticus | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/status-epilepticus
WEBGenetic diseases such as Fragile X syndrome and Angelman syndrome; Head injuries; What are the symptoms of status epilepticus? These are possible symptoms of status epilepticus: Muscle spasms; Falling; Confusion; Unusual noises; Loss of bowel or bladder control; Clenched teeth; Irregular breathing; Unusual behavior; Difficulty speaking; A ...
DA: 52 PA: 99 MOZ Rank: 86
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Prion Diseases | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/prion-diseases
WEBA prion is a type of protein that can trigger normal proteins in the brain to fold abnormally. Prion diseases can affect both humans and animals and are sometimes spread to humans by infected meat products. The most common form of prion disease that affects humans is Creutzfeldt-Jakob disease (CJD). Prion diseases are rare.
DA: 99 PA: 76 MOZ Rank: 56
