Walking unsteadily like a penguin turns out to be a disease!

Author: Chen Biao, Chief Physician, Xuanwu Hospital, Capital Medical University

Reviewer: Xu Jun, Chief Physician, Beijing Tiantan Hospital, Capital Medical University

I believe everyone knows the way penguins walk, they walk unsteadily and are very cute.

However, in real life, some people walk unsteadily like penguins, which is called "penguin disease."

1. What is penguin disease?

Penguin disease is actually spinocerebellar ataxia, which is a general term for a group of diseases.

As the name of the disease suggests, the patient's spinal cord and cerebellum are affected, which causes symptoms of unstable walking.

Spinocerebellar ataxia, also known as hereditary ataxia, is a genetic disease and also a rare disease. Generally speaking, its prevalence is about 3/100,000, which means that there are about 3 patients among 100,000 people.

It occurs in people of all ages, but is more common in young and middle-aged people, ranging from about 10 to 30 years old. Some patients may develop the disease in their forties or fifties.

2. What are the specific symptoms of penguin disease?

Generally speaking, in the early stages, patients may walk unsteadily and their speech may be a little unclear, with a choked voice and unclear enunciation. Gradually, the walking swing may become larger. Sometimes they may even feel that their feet cannot touch the ground, which we call the feeling of walking on cotton. Then the patient's eyes may not see clearly due to double vision. In some patients, the eyeballs may bulge out obviously.

I call them the "three no's", including unclear, unstable, and unsmooth. Unstable means wobbly and unsteady walking. Unclear means unclear speech and sometimes double vision. Unsmooth means swallowing is not smooth, and patients may have swallowing disorders in the middle and late stages. These three "no's" are its common characteristics.

Figure 1 Original copyright image, no permission to reprint

In addition, patients may also experience extrapyramidal symptoms, such as hand tremors, bradykinesia, a feeling of inflexibility and stiff movements. Some patients may also experience nystagmus, which is the involuntary movement of the eyeballs.

At the same time, limb numbness may occur, tendon reflexes may be more active and hyperactive, and even pathological signs may appear. Some patients may even experience epilepsy, convulsions, or cognitive impairment, poor memory, and decreased judgment.

Of course, different types of patients will have their own characteristics.

At present, it is divided into more than 40 types according to different genetic genes and clinical manifestations. The most common one is SCA3, in which patients may be more likely to have symptoms such as protruding eyes, mask face, tremor, bradykinesia, and Parkinson's disease.

For SCA2 patients, their tendon reflexes are not hyperactive but weakened; for SCA7 patients, retinal degeneration and visual problems may occur; and SCA1 patients are prone to cognitive impairment.

3. How to diagnose penguin disease?

If a young adult cannot control his/her walking, bumps into people frequently, or stutters and speaks unclearly, he/she should go to the hospital for treatment.

Generally speaking, you should see a neurologist because it is related to walking and exercise. If the neurologist determines that the walking is not good and the shaking is obvious, he may consider that it is a problem with the cerebellum.

If cerebellum problems are a concern, some imaging tests may be necessary, such as CT scans and MRI scans. These tests can show whether the patient's cerebellum, medulla oblongata or spinal cord has atrophied or become smaller, which would result in enlargement of the fourth ventricle. This change can in turn prove that the patient has lesions in the cerebellum, spinal cord or medulla oblongata.

On this basis, we can further conduct tests such as electromyography, electroencephalography, and even genetic testing to determine what type of gene mutation he has.

Through this series of tests, we can determine whether the patient has spinocerebellar ataxia and which gene mutation is causing it.

At present, if all these procedures are completed, about 60 to 70 percent of patients, or even a higher proportion of patients, can be diagnosed.

4. How to treat penguin disease?

Treatment for penguin disease is often symptomatic.

For example, if a patient walks unsteadily, he should be taught how to walk steadily and avoid falling, and rehabilitation training should be performed. If the muscle tension is increased, the muscles are stiff, or the muscles cramp, some drugs, such as clonazepam, should be used to relieve the muscle tension.

For example, if a patient has some Parkinson's symptoms, such as hand tremors and slow movements, he or she can take some drugs to relieve these movement disorders.

If the patient also has cognitive impairment, use some drugs targeting cognitive impairment, such as memantine.

Therefore, treatment is often based on the symptoms, which we call symptomatic treatment. The result of symptomatic treatment is to improve or stabilize the patient's function to a certain extent, rather than actually curing the disease.

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Regarding rehabilitation, one is cardiopulmonary rehabilitation. Because his movements are limited, his cardiopulmonary function may be affected. It is important to strengthen the cardiopulmonary function through rehabilitation.

The second one is mainly to improve the patient's motor coordination, so that he can adjust the rhythm when walking, increase his stability, learn how to walk on flat roads, how to go up and down stairs, etc.

The third is nutrition, which mainly involves increasing protein intake, such as fish and beans; the other is to increase the intake of some vitamins, such as vegetables.

These are our mainstays of treatment at present.

5. What should we pay special attention to in our daily life when it comes to penguin disease?

The most important thing is to avoid risks, such as the risk of falling caused by unstable walking, the risk of choking and leading to pneumonia due to swallowing disorders, the risk of muscle atrophy caused by lack of exercise and walking, etc.

The main problem of the patient is that he walks unsteadily and lacks strength, so we need to pay attention to rehabilitation training. Let him stand firmly, walk step by step, and make a rhythm. At the same time, he needs a support when walking, so that he is not likely to fall.

While training patients how to walk steadily, they should try to walk and move more to avoid muscle atrophy due to disuse.

For patients with swallowing disorders, too thin liquid food can easily cause choking and coughing, so try to avoid it. It is recommended to eat something relatively viscous, such as soup and rice, vegetable rice, or paste-like food, which is not easy to choke.

For patients in the late stage of the disease, eating is very difficult and the eating problem can be solved by inserting a gastric tube or using a gastrostomy.