Kugelberg-Welander Disease
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Kugelberg-Welander disease is a type of autosomal recessive muscular ailment that is alternatively called spinal muscular atrophy type 3. It usually attacks the victims between 2 to 17 years. Since the muscular structure is affected the victims can not walk normally. They also face difficulty in movement. It is seen as a genetic malfunction that impacts the nerve cells that lead to the atrophy or freezing of the muscles.

This disease targets the nerves located on a zone of the spinal cord named the anterior horn. The nerve cells of that area receive damage and the link between the muscles and the brain is severed. This leads to the waste of the muscles. As a matter of fact, the muscles located near the trunk are severely affected. These muscles are mainly used for performing movements like walking, crawling, swallowing etc.

This is an autosomal recessive condition that can affect both the girls and the boys equally. On an average, 1 in every 10000 children fall prey to this menace. A larger number of people act as the careers of the disease.

Causes of Kugelberg-Welander Disease

The specific causes of the disease still remain unknown to the medical community. It is an inherited disease that adheres to an autosomal recessive manner. In some patients, the occurrences of X-linked recessive manners and autosomal dominant patterns have been observed. However, all the variants of SMA are caused by the deletion of a gene that stays on chromosome 5. The gene thought to be responsible for causing this disease is named SMN1.

Symptoms of Kugelberg-Welander Disease

The children suffering from Kugelberg-Welander disease or SMA type 3 may not show the usual symptoms in the early years. As a matter of fact, some of them may not exhibit any visible symptoms before they are 10 years old. Some children may develop the symptoms slowly as they grow up. The most common symptoms of the disease are limitation of the hip muscles.

The afflicted people face difficulty in rising from a sitting posture particularly from the floor level. Similarly, Climbing staircases seem to be a daunting task for them. Occasional muscle cramps and mildly painful tremors can trouble a victim of this ailment from time to time. The patients may also suffer from weaknesses in the facial muscles.

Treatments for Kugelberg-Welander Disease

There is no specific cure for this genetically acquired ailment. But most of the cases are treated with preventative rehabilitation and symptomatic control. It is imperative to maintain the joint mobility of the patient. The patients suffering from Kugelberg-Welander disease need to undergo stretching exercises and strength training under the guidance of a veteran physical therapist. Another viable alternative to improve mobility is aquatic therapy.

If the disease weakens the muscles of a victim in a progressive manner, as has been seen in many cases, the use of a wheel chair becomes mandatory. Apart from this, there are a number of assistive devices available in the market. The use of manual wheel chair is advised rather than electric counterparts to facilitate better muscle movements.

For treating the patients suffering from this ailment, occupational therapies are used by some doctors. This therapy aims at teaching the patients the ways to scope with day to day activities. Speech therapy is also required in some instances.

Another way of treating this disease is genetic counseling. The parents, extended family members and the patients themselves can reap benefits from this. The SMA carrier detection can help in predicting the possibility of the next generation contracting the disease. Blood tests and antenatal screening can also identify the career of the gene.

Advice

The victims of the ailment should undergo regular follow ups in order to obtain symptomatic control of the malaise. The factors like nutritional state, Respiratory function, orthopedic status as well as equipment condition should be checked at each follow up. A caring approach and compassionate treatment at home is also required besides giving professional medical care to a patient.

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One item that isn't discussed in the SMA III article is the fact that since it affects ALL muscles, the cardiovascular system MUST be included. I'm currently 51 years of age and an identical twin. My brother and I have suffered from SMA III all our lives. Out of plain experience I can advise other sufferers to keep moving while you still can and as the article states, AQUA THERAPY is the most effective treatment and least stressful. I'm confined to a power chair now and the most effective pain control medication I've used to date is 50 mg Tramadol (2 every 5-6 hours). I'd also advise keeping your legs elevated above your heart when sleeping and use support pillows for positioning and comfort. Sponge baths will be the norm once walking is eliminated. Prayer and fellowship will help immensely with stress and keep depression at bay. God Bless and ALWAYS remember: YOU ARE NOT ALONE.
#1 - James Thompson - 12/29/2013 - 14:41
I was diagnosed with SMA when I was 26 years old. Having recently married, my neurologist asked if we planned on having children. I answered yes and he then told me that I should really think about not having children which, to say the least, really upset me. Thank God that I chose to ignore his advise because I am 56 and am a mom to 3 wonderful children. My symptoms have gotten worse over the years but my kids are old enough to take care of their own needs which takes the load off of me. I feel that if I had taken the advise of the neurologist and not had my children I would have missed out on the huge blessing ofenjoying raising our children and seeing the beautiful adults that they have become. Trust yourself and keep the faith.
#2 - t.pionessa - 03/11/2016 - 17:14
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