Neurogenetic and neurometabolic disorders in Dubai.
Neurometabolic and neurogenetic disorders are inborn abnormalities of metabolism or genotype aberrations that are usually triggered by genes or chromosomal abnormalities. This disorder leads to abnormal functioning of the brain and other body organs like the muscles, liver, spleen, heart, etc. It’s a very wide umbrella term used to describe a variety of conditions that can affect a child from early years. Some of these conditions, if identified early and treatment instituted, can be successfully treated leading to a much-improved quality of life for the child.
While most neurometabolic or neurogenetic conditions are genetic, not all are inherited. Some neurometabolic conditions are:
- Brain malformations
- Delayed Physical Development
- Underdeveloped cognitive abilities
- Epilepsy or seizures
- Metabolic disorders
- Neuromuscular disorders
- Neurocutaneous syndromes e.g.- neurofibromatosis
- Pediatric stroke
- Neurodegenerative disorders
- Metabolic conditions
Dr. Arif Khan is highly qualified and experienced in treating several neurogenetic and neurometabolic disorders in Dubai. Some of the overlapping and common symptoms of these conditions include:
- Hearing problems
- Vision problems
- Cognitive disabilities
- Muscle weakness
- Abnormal head growth
- Uncontrollable movements
Dr. Arif's Approach To Diagnosis
Typically, children with the above problems need comprehensive investigative work-up. This may include brain scans, metabolic blood tests, NCS/EMG studies, ophthalmological testing, and genetic testing. Following investigation, a specific diagnosis is made and treatment options are discussed. Some commonly used diagnostic tests include:
- Preliminary clinical examination. Dr. Arif asks for a detailed clinical examination that includes in-depth family medical history, examination of your child’s body, and behavior. While examining, Dr. Arif pays special attention to signs of a neurogenetic disorder, for example-birthmarks, inappropriate body growth, or abnormal neurologic cues.
- Blood Tests. The blood test is an important indicative test that may signify excess or deficiency of a particular enzyme, lipid, or any other component, indicating neurogenetic condition.
- DNA Test. The child’s genes and chromosomes play a vital role in deciphering the transmission order. Hence Dr. Arif says, that DNA examination can help indicate important characteristics of neurological disorders transference, henceforth helping him frame an adept treatment in response.
- Urine test. Urine tests indicate the presence of chemicals and proteins, further indicating neurogenetic disorder.
- Spinal tap or lumbar puncture. Dr. Arif may recommend a lumbar puncture if the above tests are non-conclusive. Lumbar puncture obtains cerebrospinal fluid for checking infections or any other neurogenic condition indication.
- Biopsy. A small tissue, blood, or bone sample examination is required if the above tests are inconclusive.
- Magnetic Resonance Imaging. MRI can be very helpful in diagnosing several brain and nervous malfunctioning or indicating intracranial signs of specific neurogenetic disorders.
Dr. Arif's Customized Neurogenetic Disorder Treatment Plan
Typically, the children with a neurogenetic disorder in Dubai also face other mental, emotional, or physical problems. Dr. Arif’s comprehensive and inclusive treatment plan aims to provide a holistic solution to their neurogenetic disorder. For example, if a child has epilepsy with speech problems, Dr. Arif, with his team of multidisciplinary specialists, provides comprehensive epilepsy and speech defects treatment, improving the child’s overall well-being and quality of life.
The treatment depends on symptoms for proper management.
- Pediatric counseling and Neuro-rehabilitation: Dr. Arif has extensive training in all areas of pediatric neurology, which allows him to discuss the genetic reports, and disorder progression possibility with parents with the help of supportive diagnostic reports. In addition, he counsels parents about how to take care of their children.
- Medications and Therapies: Dr. Arif and his specialists will create a medicinal treatment and therapeutic plan to combat various neurogenetic disorders, for example, muscular disorder or epilepsy. Usually, the medications and therapies go hand-in-hand.
- Physical and occupational therapies: If the child experiences balance loss, muscle weakness, or spasticity, then Dr. Arif’s team will provide remedial physical and occupational therapies to manage the child’s neurogenetic disorder.
- Clinical Geneticists Consult: Neuropedia has in-house clinical Geneticists to initiate and plan a genetic diagnostic strategy and wider family counseling plan.
- Speech Pathology- The doctor will work on the child’s speech impairment with the help of their highly skilled speech therapists.