Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.
Eyes front and ears open. Class is now in session.
The rare disease that we will be learning about today is:
Warburg Micro Syndrome
Also known as just Micro syndrome.
What is Warburg Micro Syndrome?
- A rare neurodevelopmental disorder
- Four different types
- Defined by which gene is affected
- First described in 1993
- Less than 100 documented cases
How Do You Get It?
- Warburg Micro syndrome is linked to genetic mutations affecting at least one of four genes: RAB3GAP1, RAB3GAP2, RAB18, and TCB1D20.
- The mutation must be inherited from both parents.
- In some patients, the mutation has not been identified
What Are The Symptoms?
- Developmental delays
- Often affecting the eyes and brain
- Microcephaly (small head size)
- Corpus callosum hypoplasia (corpus callosum nerve tract is absent)
- Eye problems
- Congenital cataracts
- Small eyes with malformations
- Microcornea (small cornea)
- Optic nerve atrophy
- Poor vision
- Abnormal pupils
- Severe intellectual disability
- Brain atrophy or shrinkage
- Muscle spasms
- Often with decreased muscle tone
- Excessive hair growth
- Distinct facial features
How Is It Treated?
- Goal: Maintaining quality of life and reducing unnecessary suffering.
- No treatments available that can cure the disease or halt/slow progression
- Management is based on the symptoms present in the individual case.
- Medication to treat seizures
- Surgery for severe cataracts
- Often a team of specialists is required for proper treatment.
- Speech, physical, and occupational therapies can be helpful
Where Can I Learn More???
- Check out our cornerstone on this disease here.