Editor’s note:This is a case of Spino Cerebellar Ataxia handled by the renowned Dr. Amarsinha Nikam. Can you solve this case? Send the rubrics you chose and the remedy to : [email protected]
This is a very interesting case of a patient aged 37 who had come to me from Australia. He was diagnosed to have a rare genetic disorder “Spino Cerebellar Ataxia”. He was a known Diabetic since 2001 and was on insulin for two years. He was also shown to have Osteoporosis.
His symptomatic history is as follows:
Initially his family members and friends noticed his imbalance while walking. As the days progressed, the imbalance increased and he started walking like a drunkard, in a zigzag manner. He couldn’t close his eyes even for 30 seconds while standing, as he would fall down. This made it difficult for him to do his day to day activities, like bathing. While bathing it was a must for him to keep his hand on his forehead to prevent the water coming to his eyes, since he may fall. His speech was not clear. He had slurred speech.
He had consulted Neurologists in Australia who suggested MRI of the brain and few blood tests which proved to be normal. At last his genetic assessment showed Spino Cerebellar Ataxia disorder. He consulted various experts in this field and they informed him it was a rare and dangerous disorder which gradually makes the person bedridden. He was also told that the allopathic system had no treatment for it, and that he had to suffer consequences till the end of his life.
Later he was referred to me by one of his friends who resided in Bangalore.
Spinocerebellar ataxia :
Signs and symptoms
Spinocerebellar ataxia (SCA) is a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs, and different ataxias are known to affect different regions within the cerebellum. As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms.
The symptoms of an ataxia vary with the specific type and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.
The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Many types of autosomal dominant cerebellar ataxias are now known for which specific genetic information is available. Synonyms for autosomal dominant cerebellar ataxias (ADCA) used prior to the current understanding of the molecular genetics were Marie’s ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term “spinocerebellar degeneration.” (Spinocerebellar degeneration is a rare inherited neurological disorder of the central nervous system characterized by the slow degeneration of certain areas of the brain. There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.)
There are five typical autosomal recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. Disorder subdivisions: Friedreich’s ataxia, Spinocerebellar ataxia, Ataxia telangiectasia, Vasomotor ataxia, Vestibulocerebellar, Ataxiadynamia, Ataxiophemia, Olivopontocerebellar atrophy, and Charcot-Marie-Tooth disease.
There is no currently known cure for spinocerebellar ataxia, which is considered to be a progressive and irreversible disease, although not all types cause equally severe disability. Treatments are generally directed towards alleviating symptoms, not the disease itself. Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others. Both onset of initial symptoms and duration of disease are variable. Typically, a person afflicted with this disease will eventually be unable to perform daily tasks (ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent.
What is osteoporosis?
Osteoporosis is a condition characterized by a decrease in the density of bone, decreasing its strength and resulting in fragile bones. Osteoporosis literally leads to abnormally porous bone that is compressible, like a sponge. This disorder of the skeleton weakens the bone and results in frequent fractures (breaks) in the bones. Osteopenia is a condition of bone that is slightly less dense than normal bone, but not to the degree of bones in osteoporosis.
16.02.2009 : Molecular Med-lab :
Spinocerebellar Ataxia Type I.
Test Request: SCA1 DNA testing.
A 2:51 repeats.
A 1:31 repeats.
Normal range: 24-38 repeats.
Affected range: 42-82 repeats.
This result confirms a diagnosis of SCA1 in this patient. Children of the patient have a priority risk of 50% to inherit the disease.
Abnormal gait – tottering, staggering since 4 yrs.
Gradual onset. Rapid progress since 1 yr.
Imbalance during walking. He fell down twice.
Can’t stand on one leg and also on closing the eyes/
< Mental exertion.
2. Slurred speech since 4 yrs.
Gradual onset. Rapid progress since 1 yr.
Pain in both knee joints since 3 yrs.
Stitching type of pain.
He stands for 6 hours daily (for his work).
< Early morning. > Hard pressure.
Past History :
Appendectomy 9 yrs before.
Jaundice in 1999.
Chikenpox in childhood.
# of Rt. metatarsal joints in 2008.
Family History :
Father : D.M., C.R.F.
Mother : Having same problem. Spino Cerebellar Ataxia.
Physical Generals :
- Habit : Chronic Alcoholic for 17 years. Stopped since 4 years. Chronic Smoker for 17 yrs. 20 Cigarettes /day. Stopped since 4 years.
Diet : Veg.
Appetite : Good. Can’t tolerate hunger.
Desire : Sweets, Fried food, Ghee, Ice Cream, Cold Drinks, Milk.
Aversion : Non-veg.
- Eyes : Wearing spectacles since 2000.
- Head : Frontal headache occasionally.
Thirst : Good. 3-4 Lit./day.
Tongue : Dry & pale.
Teeth : Caries on Rt. side one tooth. 4 false teeth on lower jaw.
- Gums : Bleeding gums occasionally. Had done flat surgery for gums.
- Back : Pain in Lt. scapular region since 1994. Duration 2-3 hrs.
Perspiration : Profuse, Hot sweating. Mole on nose & face.
- Sleep : sleep Unrefreshing. Snores.
Position: Lies on (Lt.) side.
Thermals : Towards Chilly
Tell me about your childhood.
I am brought up in a joint family in a village. I have one brother elder to me and a sister younger to me. I have completed Diploma in Mechanical Engineering.
2. Tell me about your nature.
I was short tempered. Mostly I get angry when I see anything untidy in my house. I was very close with my friends. Friendly nature. I’m very cool and jovial. I like drawing. I love being in parties and enjoying with my friends. I get angry when my house is not clean or if someone is disobeying me. I express it by shouting at them.
I’m very sensitive to insults; if someone does I’ll be waiting for an opportunity to pinch them back. I am fond of company of people, yet I won’t like wasting money unnecessarily on others or helping others.
I love watching movies.
I was an alcoholic and smoker for 17 years. I enjoyed my life to the fullest.
But when my BSL was raised, I was supposed to quit it. Even now, I feel why this happened to me in my young age? Feeling sad about my disease.
I miss the parties and enjoyment with my friends.
His brother, who was accompanying him, added that he is talkative and enjoys company.
Tell me about your worries.
I’m worried about my future and my family. I feel sad when I think about the prognosis of the disease.
I am worried, feeling whether it will make me bedridden like my mother, since I have inherited the disease from her.
Whenever any relative or anyone inquires about my health, I don’t like it. I feel hurt.
I miss the enjoyment with my friends. Sometimes, when I’m alone I weep.
4. Any fear?
I have great fear of heights.