Maternally Inherited Diabetes and Deafness
What else is it called?
- Ballinger-Wallace syndrome
- Diabetes mellitus, type II, with deafness
- Maternally transmitted diabetes-deafness syndrome
- Mitochondrial inherited diabetes and deafness
- NIDDM with deafness
- Noninsulin-dependent diabetes mellitus with deafness
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What causes it?
This condition is caused by a problem in either the MT-TL1, MT-TK, or MT-TE gene, which are found in your mitochondria. They are part of the process in your body that changes food into energy. These genes provide instructions for making molecules called tRNAs (transfer ribonucleic acid) which help to construct proteins that your body can use to produce the energy that our cells need to work effectively.
If you have a problem in either the MT-TL1, MT-TK, or MT-TE gene, you will have a reduced rate of making the tRNA molecules. Therefore, you will not be able to make enough protein, and this reduces the amount of insulin your body can produce. Insulin is needed to manage the sugar levels in your bloodstream and ensure that they do not decrease or increase too much.
How common is it?
Maternally Inherited Diabetes and Deafness is believed to occur in 0.2%-3% of all people with diabetes. It has been diagnosed in people across the world, but it is reported to be more prevalent in Japan.
What are the signs and symptoms?
Symptoms typically start showing in early-mid adulthood, although children are sometimes diagnosed, alongside older adults. Most people experience hearing loss first, which may progressively get worse or rapidly decline. Not all people with Maternally Inherited Diabetes and Deafness experience hearing loss, although it is very common. Specifically, you will struggle to hear high frequencies and may require hearing aids, however it very rarely leads to complete deafness.
Diabetes usually follows hearing loss. Most people experience type 2 diabetes, although 20% of people with this condition develop type 1 diabetes.
Other symptoms for this condition include:
- Muscle weakness or cramps, especially whilst exercising (myopathy)
- Heart issues
- Kidney disease
- Constipation and stomach issues (gastrointestinal disease)
- Discolouration and thinning of the back of your eyes, known as your retinas (this is called macular dystrophy, and it is a form that is unique to this condition). However, it is unlikely to affect your sight.
- In very rare cases, there is a possibility of stroke.
People with Maternally Inherited Diabetes and Deafness are typically short in size and slim.
Life expectancy for the condition is good if you are diagnosed early and you manage your symptoms appropriately.
How is it diagnosed?
When diagnosing Maternally Inherited Diabetes and Deafness, your medical team will first diagnose each of your symptoms. A specialised blood test will be required to check for diabetes. You will also undergo an eye test to see whether you have the macular dystrophy specific to this condition (explained above).
Your medical team will also take into account any hearing loss you have experienced, and a low body weight, in order to discount a diagnosis of type 1 or type 2 diabetes. This is important because Maternally Inherited Diabetes and Deafness may originally be diagnosed as either type 1 or type 2 diabetes.
Due to the possibility that Maternally Inherited Diabetes and Deafness may have no symptoms (asymptomatic) until later on in life, you may be tested after a sibling or parent is found to have the condition. If your mother or siblings are diagnosed, it is important that you get tested as you are highly likely to have inherited the condition too.
Can it be treated?
Maternally Inherited Diabetes and Deafness does not have a cure. Instead, treatment focuses on managing the symptoms and offering support.
To manage your diabetes, you may have to regularly measure your insulin levels and take daily medication for the rest of your life. It is also extremely important to maintain a healthy diet and to be active in order to manage diabetes. Your medical team will tell you what lifestyle changes you need to make to manage your condition.
If your hearing loss is severe, you may be offered hearing aids to help you. Your medical team may want to check your heart, kidneys, and other organs regularly to ensure that they are healthy and functioning properly.
Do my family need to be tested?
Maternally Inherited Diabetes and Deafness is always inherited from your mother. It is inherited in what is called a mitochondrial pattern.
Information about the mitochondria is always inherited from the mother. This means that a female with the condition will pass it on to any children that she has. A male with the condition will never pass it on to his children because he does not provide the genetic information for mitochondria.
It has been recognised that, although mothers will always pass on the condition, the severity in which it presents can change considerably. This means that if your mother has complications and severe hearing loss, for example, it does not necessarily mean that your symptoms will be as extreme.