Basic Activities Including Walking And Talking Became Difficult For A 46-Year-Old Man: Doctors Diagnose An Extremely Rare Disease

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Pune, 27 March 2021: Life came to a standstill for this 46-year-old man for whom basic activities such as walking and talking became difficult. After a variety of tests, he was diagnosed with a rare illness called Anti-GAD-65, antibody-mediated cerebellar ataxia.


This rare disease, even though not life-threatening has the potential to severely hamper the day-to-day functioning of a patient. The disease is so rare that it is difficult to assess and doctors mentioned that its probability might be one in 100 lakhs. However, it is very important to diagnose it as a treatment for this illness is available.


Parmeshwar Lamjane, hailing from Daund, said, “For the last three years, I had received treatment from many doctors. But saw no sign of any recovery, rather things were worsening with each passing day. I even left my job as I was unable to walk, talk, and my vision got blurred.”


Dr. Lomesh Bhirud, Neurologist from Ruby Hall Clinic, who worked on this case said, “It is an auto-immune disease where the immune system attacks your own body. In this particular case, the antibodies attacked the cerebellar neurons, so as to cause cerebellar ataxia. We classify this illness as an autoimmune neurological disease.”


HE further said, “But with proper treatment, the disease is curable in earlier stages. Diagnosis in the initial stages plays a key role because, in the advanced stage, the treatment may not be as effective.”


The Neurologist in-charge Dr. Lomesh Bhirud further adds, “We conducted various blood tests, MRI scan of the brain, whole-body PET scan to identify any cancer focus in the body which could also lead to ataxia in this age group of patients but still the tests were inconclusive. Then, we decided to escalate our diagnostic panel which includes an Anti-GAD 65 antibody test in blood and in CSF (Fluid around the brain) and we found there were very high Anti-GAD 65 antibody titers in both blood and CSF. Finally confirming the diagnosis of Anti-GAD 65 Antibody-mediated cerebellar ataxia.


This disease is neither genetic nor infectious but high antibody titers are commonly occurring in type 1 diabetic patients. Apart from cerebellar ataxia, the other manifestation of this antibody-mediated illness is stiffness in the back, limbs, or whole body and in some seizures. The course of treatment includes immunosuppressants and injectable I.V. immunoglobulin (IV IG) which contains antibodies that binds to hazardous antibodies in the body and clears them from circulation and slowly the patient improves from his illness. The maximum amount of time for recovery would take anywhere between two to three months.”


Post one month of the treatment, Lamjane said, “I can walk without any support now. There is an 80 percent recovery in my ability to talk fluently. My vision has also improved significantly.”