Summary about Disease
Warburg Micro Syndrome (WARBM) is a rare, autosomal recessive genetic disorder characterized by severe global developmental delay, microcephaly (abnormally small head size), microphthalmia (abnormally small eyes), cataracts, and optic atrophy. It's part of a group of related disorders, including Martsolf syndrome, characterised by similar features. The severity and specific symptoms can vary between individuals. The condition impacts brain development and eye function, leading to significant intellectual disability and visual impairment. It is a congenital condition, meaning it is present at birth.
Symptoms
Severe global developmental delay
Microcephaly (small head size)
Microphthalmia (small eyes)
Cataracts (clouding of the lens of the eye)
Optic atrophy (degeneration of the optic nerve)
Intellectual disability
Seizures (in some cases)
Hypotonia (low muscle tone)
Skeletal abnormalities (less common)
Feeding difficulties
Causes
Warburg Micro Syndrome is caused by mutations in genes involved in DNA repair and cell cycle regulation, specifically those encoding proteins involved in the Kinetochore complex which is essential for chromosome segregation during cell division. Genes known to be involved include:
RAB3GAP1
RAB3GAP2
RAB18
TTC39B
AGTPBP1 These mutations disrupt normal cell division and brain development. The inheritance pattern is autosomal recessive, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
There is no cure for Warburg Micro Syndrome, and treatment is primarily supportive and symptomatic. Medicines are used to manage specific symptoms:
Anti-seizure medications: For controlling seizures, if present.
Medications for managing feeding difficulties: Such as medications to reduce reflux or promote gut motility.
Eye drops or surgery: May be needed for managing cataracts. Other treatments focus on therapies and interventions to help the child reach their maximum potential.
Is Communicable
No, Warburg Micro Syndrome is not communicable. It is a genetic disorder caused by gene mutations and is not contagious. It cannot be spread from person to person.
Precautions
Since Warburg Micro Syndrome is a genetic condition, there are no specific precautions to prevent it in an already conceived pregnancy. However, for families with a history of the condition, genetic counseling and carrier testing are recommended before planning a pregnancy. This can help assess the risk of having a child with the disorder. General health and wellness practices are important for any pregnancy.
How long does an outbreak last?
Warburg Micro Syndrome is not an infectious disease and does not have outbreaks. It is a chronic, lifelong condition.
How is it diagnosed?
Diagnosis of Warburg Micro Syndrome typically involves:
Clinical evaluation: Assessing the characteristic features like microcephaly, microphthalmia, cataracts, and developmental delay.
Ophthalmological examination: Assessing the eyes for cataracts and optic atrophy.
Brain imaging (MRI): To evaluate brain structure and identify any abnormalities.
Genetic testing: To identify mutations in the known causative genes (RAB3GAP1, *RAB3GAP2*, *RAB18*, *TTC39B*, *AGTPBP1*). This is the most definitive way to confirm the diagnosis.
Timeline of Symptoms
Symptoms are typically present at birth or become apparent in early infancy.
Prenatal: Microcephaly may be detected during prenatal ultrasounds.
Birth: Microcephaly, microphthalmia, and sometimes cataracts are present at birth.
Infancy: Severe developmental delay, hypotonia, and feeding difficulties become apparent. Seizures may begin in infancy or early childhood.
Childhood: Continued developmental delays, visual impairment, and other associated features persist throughout childhood.
Important Considerations
Early intervention: Early intervention programs are crucial to maximize the child's developmental potential. These programs include physical therapy, occupational therapy, speech therapy, and special education.
Multidisciplinary care: Management requires a team approach, including pediatricians, neurologists, ophthalmologists, geneticists, therapists, and other specialists.
Family support: Providing support and resources for families affected by Warburg Micro Syndrome is essential. Support groups and online communities can offer valuable information and emotional support.
Genetic counseling: Genetic counseling is important for families affected by the condition to understand the inheritance pattern and recurrence risk.
Research: Continued research into the underlying mechanisms of Warburg Micro Syndrome is needed to develop potential therapies and improve the quality of life for affected individuals.