I am a 51-years-old male of height 6.1 and weight 98 kg. For the last five to six years, I have been experiencing unsteadiness and imbalance while standing or walking. This happens mainly while starting to walk, taking small steps, or turning. I also often feel lightheaded. I also have some unexplained chest pain and breathlessness on exertion. Sometimes voice gets cut off while speaking. If I clear my throat and wait a bit, it comes back. I think the imbalance is gradually worsening but slowly. The doctors I have been meeting feel it is a kind of cerebellar ataxia. My brain MRI was normal. Spine MRI showed cervical cord compression, and I was suggested surgery for that, but I did not opt for it.
A few months back, I started experiencing a squeezing sensation in my left foot. It feels like something is pressing down on it. Various altered sensations are felt. Now I feel pain behind my ankle, just above the heel. This makes it difficult to flex and makes me kind of limp while walking, though not always. I am taking Gabapentin and CoQ10.
NCS conducted showed severe neuropathy in lower limbs, carpal tunnel upper limbs. I got the genetic test results just now, and I have attached them.
My questions are:
1) What could be the disease or condition I am suffering?
2) What is the prognosis?
3) What should I do next?
Kindly give your opinion.
Welcome to icliniq.com.
As per your description and attached details (attachments removed to protect the patient's identity), you have severe sensory neuropathy in bilateral legs and cervical cord compression, for which surgery was suggested.
These two abnormalities themselves can also cause imbalance while walking or ataxia. So it is difficult to conclude by chat description about ataxia as a cerebellar origin (due to cerebellar dysfunction) or sensory ataxia (due to peripheral leg nerves dysfunction), or maybe a combination of both. Your genetic test is showing some mutation in the gene causing "spinocerebellar ataxia type 43". If you have a family history of similar issues in near blood relatives, spinocerebellar ataxia can also be possible, affecting nerves and cerebellum both. Added to it, spinal cord compression at the cervical spine may also be aggravating the ataxia. But for better understanding, a physical examination will also be required.
I suggest the following:
1) Gait balancing exercises and physiotherapy, only under the guidance of a physiotherapist.
2) Spinocerebellar ataxia is a progressive and non-curable disease, and no specific treatment available till now. CoQ10 (ubiquinone, ubidecarenone) is an antioxidant. However, you can continue it, though the exact benefit is unknown.
3) Addressing cervical spinal cord compression (medical management with or without surgical treatment) may also improve walking. You need to consult physically for its detail.
I hope this was helpful.
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