Giant Axonal Neuropathy
Giant axonal neuropathy (GAN) is characterized by a severe early-onset peripheral motor and sensory neuropathy,
central nervous system involvement (mental retardation, seizures, cerebellar signs, and pyramidal tract signs), and characteristic tightly curled hair. Most individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe
polyneuropathy, ataxia, and
dementia. Death usually occurs in the third decade.
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Ataxia Friedreich
Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to
heart disease. Friedreich's ataxia is the most prevalent inherited ataxia.
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Gianotti Crosti Syndrome
It is also known as papular
acrodermatitis of childhood.It occurs in reponse to virla infection in which there will be formation of
papular rash whcih lasts for several weeks. It is also known as acrodermatitis papulosa infantum.
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Nager syndrome 1
Nager Syndrome is a condition which is extremely rare congenital defect with heriditary features which has only 25% of survival rates resulting from problems in the development of the first and second brachial arches. The first arches produce the nerves and muscles for chewing, the lower jaw, two of three bones in the middle ear, and a small part of the ears. The second arches produce the nerves and muscles of facial expression, one bone in the middle ear, most of the external ears, and parts of the bone above the
larynx.
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Giant Cell Arteritis
Gaint cell arteritis is an ainflammatory disease of blood vessels mainly involving large and medium arteritis of the head in the form og
vasculitis.It is also known as
temporal arteritis since it frequently involves mainly the temporal
artery. It can also involve large arteries like aorta when it is called as gaint cell
aortitis.
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NAcetyl Glutamate Synthetase Deficiency
NAGS deficiency is a rare autosomal recessive inherited urea cycle disorder where a lack of a certain enzyme (N-acetyl glutamate synthetase) results in accumulation of ammonia in the blood as it can't be broken down and removed through the urine. Symptoms are visible within the first week of life and if not detected and diagnosed immediately consequences are fatal.
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Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment,
cerebellar ataxia, and variable
immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray
hypersensitivity, ocular and cutaneous telangiectasia, and a predisposition to malignancy.
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Yellow Nail Syndrome
Yellow Nail syndrome or YNS is a condition which generally consists of three symptoms like
lymphedema, yellow discolored nails and
Pleural Effusion. Sometimes only two features are present in some patients and even then it can be referred as Yellow Nail syndrome. More than 40% of the patients will have
Bronchiectasis.
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Yellow Fever
Yellow
fever is sometimes also called as American
Plague or yellow jack. The disease is an acute viral disease. It leads to hemorrhagic fever mainly in African and South American countries. The name yellow fever is because it leads to the
jaundice like symptoms in the affected patients. The effective
vaccine against the disease exists.
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XYY Syndrome
XYY syndrome is a condition known as
aneuploidy which is a
trisomy of the sex chromosomes in which a male has an extra
Y chromosome which results in a 47 XYY
karyotype. It has been found that most of the sufferers don?t know their karyotype. It has been proved that some 97% of the patients are unaware of their condition.
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