ALD on infant boys.

ALD (Adrenoleukodystrophy) is a rare genetic disorder that mainly affects infant boys, but can also affect adult males. It is caused by a mutation in the X-linked ABCD1 gene. This gene codes for an enzyme that breaks down long chain fatty acids in the body. When there is a mutation in this gene, these fatty acids build up and cause damage to the myelin sheath of nerves throughout the body, which results in severe neurological problems ranging from mild learning disabilities to complete paralysis and death.

ALD on infant boys.

The most common clinical symptom of ALD in infants is progressive weakened muscle tone with weakness of limbs especially lower extremities such as legs and feet. Other signs include hearing loss, vision impairment, seizures, behavioral changes or difficulty speaking or understanding speech. In some cases it may even lead to coma or death if not properly treated quickly enough. The exact causes of these symptoms are unknown but experts believe they are due to damage done to nerve cells and brain structure by high levels of saturated fats called VLCFAs (very long chain fatty acids). These are toxic for nerve cells leading to their destruction over time which eventually leads to significant deterioration in motor skills and cognitive functions including language comprehension and verbal expression, learning ability as well as memory recall capabilities

Most cases of ALD occur during childhood when there may be delays in diagnosis since neurological symptoms do not manifest until later on in life around late puberty or early adulthood; however cases can still occur earlier at birth due to genetic testing done before delivery. Diagnosis consists mostly on physical examinations along with specialized tests such as magnetic resonance imaging (MRI) scans looking for abnormalities within the brain or spinal cord that point towards ALD being present,. Genetic testing is also used to confirm if an individual has inherited mutated copies of the ABCD1 gene from both parents who also carry it themselves (recessive inheritance pattern). Treatment usually involves managing symptoms rather than curing them outright with medications prescribed depending on what type/level of disability needs alleviating while dietary changes help reduce further complications associated with high levels VLCFAs circulating through bloodstreams

Apart from drug therapy/dietary control/therapy programs aimed at improving quality life children affected by ALD will often require additional assistance from a multidisciplinary team comprised occupational therapists, physiotherapists , social workers etc who work together aiming providing best possible care given circumstances each patient presents itself which allows individuals suffering this condition maintain highest degree functioning despite underlying medical condition they might have suffered

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