A 3-year-old boy within the U.K. has lost his ability to walk and talk after he was diagnosed with a rare genetic condition, called metachromatic leukodystrophy (MLD). The debilitating condition causes early-onset dementia, which is otherwise related to the elderly.
MLD is a rare disorder that regularly progresses and affects the functioning of the nervous system and brain. The condition is attributable to the dearth of an enzyme, arylsulfatase A (ARSA), which leads to the build-up of sulfatides within the body. The chemical damage attributable to the missing enzyme affects sheaths that surround nerves and damages the nervous system, kidneys, gallbladder and other organs.
Joey Walton from West Yorkshire, England, was diagnosed with late-infantile MLD when he was 18 months old. Walton lost his ability to walk and talk. The condition could cause muscle wasting, weakness, lack of vision, issues with swallowing, paralysis and dementia.
Doctors say Walton has grim possibilities of survival beyond the age of seven.
“If it’s picked up early, treatment is obtainable. It’s too late for Joey, but when we will stop more families going through this agony, it’s value it,” Katie, the boy’s mother, said.
Know more about MLD
MLD occurs when a mutated gene is inherited from each biological parents. It affects one in every 40,000 people in the USA. Other than dementia, the condition causes malnutrition, blindness, aspiration pneumonia and death.
There are three forms of MLD:
1. Late infantile MLD: That is essentially the most common style of MLD that affects children between the ages of 12 and 20 months. The condition causes walking issues, developmental delays, blindness and dementia. Nearly all of the youngsters with late infantile MLD die by age 5.
2. Juvenile MLD: That is the style of MLD that affects 20 to 30% of individuals. The deterioration starts between the ages of three and 10 and might result in cognitive decline, behavioral difficulties, seizures and dementia. The patients are expected to die inside 10 to twenty years after the diagnosis.
3. Adult MLD: The sort of MLD begins after the age of 16. The patients develop psychiatric issues, seizures and dementia. The typical expected life expectancy is six to 14 years after the diagnosis.
Diagnosis and treatment
MLD is diagnosed through blood tests, urine tests and brain MRI (magnetic resonance imaging). Currently, there isn’t a cure for the condition. The treatment involves medications to manage symptoms equivalent to digestive issues, pain and seizures and supportive care equivalent to speech therapy and physical therapy. In some children, umbilical cord blood transplant is a treatment option to cut back disease progression.
Published by Medicaldaily.com