Symptoms of SMA type III, often called Kugelberg-Welander disease,which is a rare inherited disorder that appears between the ages of two and adulthood, and may include abnormal gait, limited walking ability, difficulty with activities such as running, climbing steps, or jumping, difficulty getting up off the ground after falling and a fine tremor in the outstretched fingers, and loss of reflexes. The prognosis: walk and able to stand unaided.Weakness is usually static, but can also be slowly progressive or lessen with age. Usually a normal life span, but long term survival usually depends upon the respiratory function.

Kugelberg-Welander Disease is also Known as:

KWS

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy Type III (SMA3)

Juvenile Spinal Muscular Atrophy Type III

Kugelberg-Welander Syndrome ( KWS )

My Life With KWS

I was born in England in February 1964 and was a crumpled baby.We came to Canada (my mother's birthplace) to live. I couldn't hold up my head until I was over 6 months old and couldn't walk until 22 months. I hung onto the chesterfield for balance at first, but quite rapidly learned to walk without hanging onto furniture( see photos).

My mother taught me to ski when I was 7 years old(see photo). I was great at snowplowing. Unfortunately, a friend of my mother's was helping me up the tow rope and our skis crossed and I ended up with a broken right leg. This accident unfortunately precipitated a lot of problems. My leg was set in a cast with my heel up. When the cast was finally removed I and my mother couldn't get my heel to come down properly.The Achilles tendon had tightened and I walked on my toes. My right leg never seemed to be as strong as it had been and from then on I began always leading with my left leg when climbing stairs. When I was 12, I ended up needing surgery called Triple arthrodesis to fix both my ankles( as the tendon in my left leg also began to tighten too) and stretch the tendons. I was also informed I had Scoliosis, but never had the surgery to correct it. I loved skiing and managed to do it until the operations.

As a child, my balance was very poor( possibly because of the shortened tendons). All you had to do was sneeze in my general direction and I went flying! I fell at least once a day, to this day my knees still show the scars. I could not run, jump, do a sit up,climb a rope,do a pull up, or climb stairs,very well. I also had a little bit trouble getting up if I fell.

My mother realized something was wrong by the time I was 6 months old and took me to many doctors. They indicated that there was nothing wrong. When I was 12 years old my mother took me to see a Pediatric Neurologist. He ordered a EMG and a muscle biopsy. The results were unfavourable and the best he could come up with was Congenital Myophathy (weakness from birth) . I saw a physiotherapist and was given a set of excercises to do.

My strength seemed to remain at about that level until I started high school. I had been excused from gym in Junior High and High school. The only change I had noticed was it was getting harder to get up if I had fallen.

The first change I noticed was in January of '84 after I started taking Foundations of Commercial Art at a local College. I noticed that it was getting significantly harder to climb up the steps to board the Transit buses. I also began to dislike climbing stairs that didn't have a railing or walking up steep slopes. In January through March of '85, I was working and I noticed that I was having trouble walking home from work. I had to concentrate putting one foot in front of the other. It felt as though I had walked 50 miles and my legs were exhausted(it was in reality one mile) and I felt like I was going to fall on my face. I was finally sent to see another Neurologist and was diagnosed with with Kugelberg-Welanders Disease/Syndrome. I had never heard of this disease before and no one in my family had ever had this disease.All the neurologist said was there was nothing that could be done and I'd be in a wheelchair in Five years(it actually took about nine years). The Muscular dystrophy Association sent me a brochure, but the information in it wasn't enough. It didn't answer my questions. Where were all these people who had the disease? I needed to talk with one. I felt like I was the only person who had it. I had a million questions.My family Doctors had never heard of this disease and I was the only patient they had ever had with it. I found it frustrating...

I continued losing my strength. It seemed as though between January through March, I would lose more strength noticeably. It seemed to be almost an annual event. I still don't understand why. I could no longer work and went on GAIN.

From '86 through '89, I began using a cane(outdoors). I began to hate stepping up curbs, and stairs. I began to notice trouble with coming down the stairs. I was having major trouble getting up out of low to medium height chairs. I couldn't bend over without climbing back up my legs. Couldn't lift my full grown cat up off the floor. The day came when I couldn't get up out of the bathtub(MDA provided us with a much needed bathlift).

I finally had to get an electric scooter, easylift chair and a raised toilet seat in '90. My mother had become ill and we were forced to move to an affordable apartment in '91 We managed ok. Then in November '94, I tripped over my cat and fell hard onto my knees and could not move my legs( I remember thinking "gee this is the first time since I was in elemetary school that I could actually sit on my heels"). I had Xrays taken and was given the unbelievable news. I had fractured both femurs in a total of five places. The Xray technician looked horrified and disbelieving. I remember him asking "what have you got!!!". The Doctor said I needed surgery and that I would probably never walk again. I was not allowed to put weight on my legs for two months( muscles waste away fast when you don't use them). I spent 6 months in the hospital and I did walk again only with a walker. But I could only walk a few feet and it was exhausting and I was terrified of falling again(my balance was now worse). So I was now forced to use a manual wheelchair. I had a bone scan done and was told I had osteoporosis! I thought this was something elderly women got, not women in their early thirties!!! The Doctor prescribed Fosamax and it seems to be working to increase my bone mass a little.

Since using the wheelchair my strength has declined rapidly all over; Legs, back, shoulders. I excercise using weights, and therabands. I get range of motion exercises twice a week with the help of our Homemakers. I was going to the pool swimming, but with my mother's Parkinsons Disease suddenly worsening I did not return. I have worn out my first scooter and am working on the second. I love to garden, play with the computer, cook ( I am finding it harder as my arms are weaker ), I still paint occasionally, read(Steven King and Horror stories, the scarier the better!) take photographs (though my camera seems to be getting heavier), I'm a volunteer gardener at a local nursing home.

Since early '98 I have also been diagnosed with several new health problems:

schizencephaly

atypical trigeminal neuralgia

Neurogenic bladder

Floaters and Flashers and entopic phenomonon

I don't know what the future will bring. I'm sure I'll have to surgery for scoliosis some day but with having osteoporosis, and osteoarthritis, I don't think the Doctors will be too keen on it. I'll just take it one day at a time and do the best that I can.

If you would like more information on SMA 3 be sure to look at the links. My favorite ones are: Melissa's Page , Living SMArt , Families of SMA Guestbook.