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- Rapid increase in head circumference especially during early infancy<\/li>\n
- Lack or inability in head control<\/li>\n
- Undeveloped motor skills or may lose previously acquired motor skills<\/li>\n
- Failure to thrive due to difficulty in feeding and swallowing<\/li>\n
- Nasal regurgitation of food<\/li>\n
- Irregular stance of flexed arms and straight legs<\/li>\n
- Atypical muscle tone such as floppiness or stiffness especially in the neck muscle<\/li>\n
- Visual responsiveness is diminished or blindness may occur over a period of time<\/li>\n
- Inability to perceive sound or hearing loss also occurs<\/li>\n
- Episodes of seizure<\/li>\n<\/ul>\n
Children with Canavan disease are usually quiet and apathetic and are usually irritable.\u00a0 They often lack in energy and are sluggish.\u00a0 The child may also suffer from seizure, blindness, deafness and probably paralysis.\u00a0 Developmental milestone is diminished as the child\u2019s basic motor skills are lost including mental retardation of the child which is usual in Canavan disease.\u00a0 It is expected that a child may not live over the age of 10 or usually dies before they reach the age of 4 especially to those who do not receive any treatment and therapy.<\/p>\n
Causes<\/h2>\n
Canavan disease is among the group of genetic disorders called Leukodystrophies wherein this genetic disorder causes damage and imperfection to the myelin sheath which serves to protect the nerve fibers.\u00a0 Canavan disease is the result of a mutation in the gene known as ASPA which functions in the production of an enzyme called aspartoacylase.\u00a0 The mutation in the ASPA gene inhibits the normal breakdown of NAA or N-acetyl-L-aspartic acid which later on leads to deformation of the myelin sheath while the nervous system of an infant is developing.\u00a0 Damage in the brain in Canavan disease is the result of destruction in the myelin sheath when the nerve fibers are left unprotected causing the myelin sheath to malfunction and later on die in the process.<\/p>\n
Aspartoacylase enzyme which is responsible for the production of ASPA gene is the primarily implicated for the disruption of the normal breakdown of N-acetyl aspartate leading to its excessive production resulting to damage in the myelin sheath.<\/p>\n
Myelin sheath functions in insulating the axon of neuron vital for the proper function of the nerve fiber in transmitting impulses to the body.\u00a0 Myelination or the formation of myelin sheath normally occurs during the 14th<\/sup> week of gestation or fetal development although the formation is usually little until at the time of birth.\u00a0 Myelin sheath is rapidly produced by the time of infancy until the child reaches adolescence.<\/p>\n
Genetic mutation of ASPA is inherited by an offspring in an autosomal recessive manner.\u00a0 It is probable that a child can inherit the disease when both parents are carriers of the defective gene.\u00a0 The disease however, is more common in people of Ashkenazi Jew ancestry although people from other ethnic background can also get affected.<\/p>\n
Diagnosis<\/h2>\n
The brain is characterized with a spongy degeneration in Canavan disease as a result of defective and deformed myelin sheath that should have been protecting the nerve fibers.\u00a0 The hallmark of the disease however, is an elevation in the levels of N-acetylaspartic acid resulting from a faulty aspartoacylase enzyme.\u00a0 It is in the detection of levels in this enzyme that Canavan disease can be diagnosed through skin cells samples or through blood samples as carried out in genetic testing.<\/p>\n
Manifestation of Canavan disease usually occurs during early infancy or at the 3rd<\/sup> month of life.\u00a0 Clinical manifestation is being noted for diagnosing such as presentation of joint stiffness and hyperreflexia including as well the presence of optic atrophy.<\/p>\n
Pre-natal screening is recommended for DNA analysis especially to couples of Ashkenazi background and couples suspected carriers of the mutated gene.<\/p>\n
Treatment<\/h2>\n
The exact cure or treatment for Canavan disease has not been identified except for the goal of treatment towards the symptoms of the disease.\u00a0 Supportive care is also being given to the patient as well as support to the family of the patient.<\/p>\n
Lithium citrate is an experimental drug being used to reduce the levels of N-acetyl aspartate although this drug is still being investigated.\u00a0 Other drugs for the treatment of Canavan disease are also being experimented and studied.<\/p>\n
Canavan Disease Pictures<\/h2>\n
Collection of pictures of Canavan Disease…<\/p>\n
![\"canavan](\"https:\/\/healthool.com\/wp-content\/uploads\/2013\/07\/canavan-disease.jpg\")
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