What is Wolfram Syndrome?
This is a syndrome that is a genetic link of “childhood/juvenile onset diabetes mellitus” as well as “progressive onset optic atrophy. Every individual having this syndrome has:
- Degeneration of optic nerve known as optic atrophy
- Childhood/Juvenile-onset diabetes mellitus
Additionally, approximately 70% – 75% of individuals affected will also have diabetes insipidus and approximately 2/3 develops what is referred to as “auditory nerve deafness:”
This syndrome is referred to as “WS”, or DIDMOAD that refers to:
DI – Diabetes insipidus
DM – Diabetes Mellitus
OA – Optic atrophy
D – Deafness
This syndrome was first defined in four (4) siblings by Dr. Don J. Wolfram, M.D. in 1938. This syndrome disturbs the brain specially the brain stem as well as the CNS or central nervous system.
This syndrome is not an easy problem to diagnose. The majority of individuals will have this disorder for years before an accurate diagnosis is made.
Some of the signs, symptoms or complaints that an individual might have or will see in their child:
- Type-1 Diabetes, normally beginning between the ages of 5 to 15
- Frequent and unusual urination in large amounts, combined with being constantly thirsty.
- Bedwetting will begin again after night training has already been successful
- Visual impairment beginning with wearing glasses but increasing rapidly
- Color blindness – socks will never match an outfit or the lawn might have many missed patches of grass after cutting.
- Reacting of the iris in the eye that is slow – even in bright lights pupils never go pinpoint
- It becomes evident that high frequency hearing loss or tonal deafness has developed
- Easy to get upset or emotionally agitated
The challenge with this syndrome is that the symptoms are in the beginning very mild. Any one of them is not difficult to overlook or to treat as an individual abnormality. But the secondary developing complications can definitely rationalize any serious worries. WS is a degenerative and progressive disease – meaning it will continue to get worse with time.
The cause of this disorder is a genetic mutation. The incidence of individuals who have this genetic trait in the United States is approximately one (1) %. Those individuals who have this recessive trait will not display the complete range of symptoms of WS. They are subject to an inflated rate of numerous methods of mental illness. It is merely when both parents have this trait recessively who have offspring who the WSF1 gene as a dominant affect. In these families the likelihood of getting the dominant trait is one (1) in four (4) for every birth. Multiple cases within a single genetically predisposed family are not uncommon.
In the UK it is projected that one (1) person in every 700,000 have this disorder. A United State scientist, Dr. Michael Swift, believes that the rate of individuals affected is much more common than has been reported earlier. No matter what the actual incident figures are, WS is a rare genetic disorder. It is currently understood to be the effect of either mitochondria or nuclear gene dysfunction. The “autosomal recessive trait” appears in both females and males with the same frequency.
Diabetes mellitus is normally the symptom of WS which will require medical management first in the progress of WS. There is not any conventional advancement of this syndrome and other difficulties that may lead the start of DIABETES MELLITUS. With diabetes mellitus, the food eaten is treated by gastric fluid in the stomach into blood sugar or glucose. Blood sugar is the body’s major source of energy used by the body cells to function. For these cells to be able to use this blood sugar, a hormone that is produced naturally by the pancreas, insulin, is needed. As soon as the pancreas stops creating the precise quantity of insulin that is required for the use of blood sugar the spare blood sugar is distributed by the kidneys into urine and emptied from the body. Extreme blood sugar is identified as diabetic acidosis and may cause unconsciousness, coma and loss of life. The problems an individual DIABETES MELLITUS may have can include:
- Frequent thirst and urination
- Slow healing
- Weight loss or lack of weight gain or growth with children
- Constant hunger
- Dryness of skin
The management of DIABETES MELLITUS in WS individuals is the same as in the management of DIABETES MELLITUS in individuals who do not have WS. This includes:
- Daily injections of insulin
- Diet controlled
- Exercise to use up glucose
- Frequent testing of glucose levels
Diabetes Insipidus – Individuals who develop diabetes insipidus will drink enormous amounts of fluid and void diluted urine frequently. This leads to:
- Dry mouth
- Dry skin
When individuals have this form of diabetes, the gland known as hypothalamus creates an abnormal quantity of hormone for anti-diuretic. DI or Diabetes insipidus doesn’t have anything to do with the amount of blood sugar or insulin. This problem has also been recognized to occur in individuals with head trauma that is severe and completely unrelated to WS.
This type of diabetes is treated normally by Desmopressin Acetate nasal spray. This medication is also available in tablet as well as injectable form. In 1989 this treatment was approved by the FDA for the treatment of Diabetes Insipidus. This medication offers heightened anti-diuretic action with minimal side effects on the blood system or the smooth muscles of individuals with Diabetes Insipidus.
Blindness/Low vision – the most discernible feature of WS is iris of the eye becoming dilated. Even when in light that is bright, the iris will stay wide and respond slowly. The continuing loss of the nerves of the optic that connect the eye to the brain is what allows this to happen. This is identified as Optic Atrophy. Any eye doctor will typically see a saucer shaped void that appears white or grayish. Some reports specify that the optic nerve seems pale pink. This can occur at any age but normally before age 12. There is no known treatment at this time for this condition.
Loss of vision in WS individuals may also be due to Diabetic Retinopathy. This is a condition of retina tissues that are light sensitive caused by continued blood sugar levels that are high. It can lead to visual damage or blindness. Blood sugar levels that are normal may help reverse changes in the small blood vessels of the eye. If blood sugar levels can be maintained in the normal range, this problem of diabetes may be evaded.
Deafness/hearing impairment – is the last major symptom of WS but not automatically last to become obvious. Loss of hearing may go from the loss of those tones that are high pitch to severe sound loss. There may as well be complications such as dizziness or ataxia. This might be due to failure of nerves to properly transmit data from the ear to the brain.
WS is not only a genetic disease that is rare but also has a variety of disorders often making this syndrome hard to diagnose. The typical symptoms may not all appear in all individuals. Normally diabetes mellitus as well as optic nerve atrophy are the clinical features that are the most consistent. A diagnosis of WS is clinically founded on diabetes requiring insulin as well as “bilateral optic nerve atrophy”. There are genetic tests which can also be run to confirm this diagnosis in most individuals. But there are numbers of individuals with WS where there is no mutation that is identifiable.
The life expectancy of individuals diagnosed with this syndrome is approximately 30 years.
Complications of this syndrome usually include the urinary tract as well as seizure disorders. Approximately 2/3 of individuals will experience renal problems in their 20s with a similar proportion developing neurological complications in their 30s.