User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia
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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia is a very rare genetic muscle disease. It mainly affects the muscles that move the ...

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Childhood Type Dermatomyositis
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Childhood type dermatomyositis is usually called juvenile dermatomyositis (JDM). It is a rare disease where a child’s own defense system (immune system) ...

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Myoseptumitis
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Myoseptumitis is a medical word that means inflammation of the myoseptum, which is the thin wall of tissue inside a muscle that separates small bundles of ...

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Myoseptum Inflammation
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Myoseptum inflammation is a thin sheet of strong connective tissue that lies between blocks of muscle fibers. It acts like a wall or partition inside the ...

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Inflammation of Myoseptum
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Inflammation of myoseptum is another medical name for childhood type dermatomyositis, also called juvenile dermatomyositis (JDM). It is a rare disease in ...

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Childhood Dermatomyositis
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Childhood dermatomyositis (often called juvenile dermatomyositis, JDM) is a rare disease where a child’s immune system attacks tiny blood vessels in the skin ...

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Pediatric Optic Nerve Glioma
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Paediatric optic nerve glioma is a usually slow-growing brain/nerve tumor that starts in the supportive ā€œglialā€ cells around the optic nerve (the cable that ...

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Glioma of the Pediatric Visual Pathway
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Glioma of the paediatric visual pathway means a brain tumour that grows along the child’s ā€œseeing wires.ā€ These wires include the optic nerves (behind each ...

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Childhood Optic Tract Glioma
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Childhood optic tract glioma is a type of brain tumour that grows in the optic tract, which is the cable of nerve fibres that carries visual information from ...

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Childhood Optic Nerve Glioma
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Childhood optic nerve glioma is a slow-growing brain tumor that starts in the cells that support and protect the optic nerve, the cable that carries sight ...

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Paroxysmal Exercise-Induced Dystonia (PED)
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Paroxysmal exercise-induced dystonia (PED) is a rare brain movement problem. It causes short attacks of abnormal movements when a person does long or strong ...

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Childhood Onset GLUT1 Deficiency Syndrome 2 (GLUT1DS2)
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Childhood onset GLUT1 deficiency syndrome 2 (GLUT1DS2) is a rare brain disease that starts in childhood and mainly causes short attacks of strange movements in ...

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Childhood Medulloblastoma
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Childhood medulloblastoma is a cancer that starts in a part of the brain called the cerebellum. The cerebellum sits at the back and bottom of the brain and ...

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Pediatric Melanoma
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Pediatric melanoma (also called childhood melanoma) is a cancer that starts in the pigment-making cells (melanocytes) of a child’s skin, eye, or very rarely ...

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Childhood Malignant Melanoma
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Childhood malignant melanoma is a type of skin cancer that starts in pigment-making cells called melanocytes in a child or teenager. These cells give skin, ...

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Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency
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Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a very rare genetic brain disease that starts in babies or young children. In this ...

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Symbiotic Psychosis
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Symbiotic psychosis is a rare mental health problem where two or more people who are very close to each other share the same strange belief (delusion). One ...

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Heller Syndrome
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Heller syndrome is an old name for a rare brain and development problem in children. Doctors now usually call it childhood disintegrative disorder (CDD), and ...

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Disintegrative Psychosis
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Disintegrative psychosis is an old name for a very rare child development problem now called childhood disintegrative disorder (CDD). In this condition, a ...

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Dementia Infantilis
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Dementia infantilis is an old name for a rare brain and development problem that is now called childhood disintegrative disorder (CDD) or Heller syndrome. It ...

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