Today, we focus on Spinocerebellar Ataxia (SCA)—a rare genetic condition that affects the brain and nervous system. It causes problems with balance, movement, and coordination. Over time, it can make walking, talking, and doing daily activities harder.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s top geneticists, has helped many families understand and manage SCA. Early diagnosis and proper care can help control symptoms and improve quality of life.
What is Spinocerebellar Ataxia (SCA)?
Spinocerebellar Ataxia (SCA) is a genetic disorder that affects the cerebellum—the part of the brain that controls balance and coordination.
In SCA, the nerve cells in the cerebellum and spinal cord become weak and die over time. This causes:
•Trouble walking
•Difficulty moving hands and fingers
•Slurred speech
•Problems with eye movement
There are over 40 types of SCA (like SCA1, SCA2, SCA3, etc.). Each type is caused by a different genetic mutation, but they all affect movement and coordination.
💡 Symptoms usually start between ages 30 to 50, but some types can appear in childhood.
Common Symptoms of Spinocerebellar Ataxia
Symptoms can vary from person to person. They usually start slowly and get worse over time.
Early Symptoms:
✔ Feeling unsteady while walking
✔ Trouble using hands for small tasks like writing or buttoning clothes
✔ Slurred or unclear speech
✔ Trouble focusing eyes or moving them properly
Later Symptoms:
✔ Shaking hands or arms when trying to hold something
✔ Weak or stiff muscles
✔ Difficulty swallowing food or liquids
✔ Losing the ability to walk without support
✔ Trouble with memory or focusing
💡 Symptoms usually worsen over 10 to 20 years. In severe cases, people may lose the ability to walk or talk.
Dr. Roshan Daniel’s Experience with Spinocerebellar Ataxia
In his practice, Dr. Roshan Daniel has seen many patients with different types and severities of SCA.
✅ Anticipation – Symptoms can appear earlier and be more severe in the next generation. If a parent starts showing symptoms at 40, their child may show them at 30 or even earlier.
✅ MRI Findings – MRI scans often show shrinkage of the cerebellum (the part of the brain that controls balance).
✅ Nystagmus – Many patients have involuntary eye movements (nystagmus), making it hard to focus or follow objects.
✅ Different Genetic Causes – SCA can be caused by many different genes. Some types are due to a repeated section of DNA (called a triplet repeat). Special tests are needed to confirm these.
✅ Difficult to Diagnose – Even with genetic testing, some cases remain undiagnosed because not all SCA-related genes are known.
💡 Early diagnosis helps guide treatment even if the exact gene is not identified.
How is Spinocerebellar Ataxia Diagnosed?
SCA can be hard to diagnose because the symptoms are similar to other nerve and brain problems.
Diagnosis Steps:
✔ Physical Exam – The doctor checks your balance, muscle strength, speech, and eye movement.
✔ MRI Scan – MRI shows shrinkage of the cerebellum, confirming nerve damage.
✔ Genetic Test – Identifies specific gene mutations that cause SCA.
✔ Family History – If a parent or sibling has SCA, other family members may need testing.
Special Tests for Triplet Repeats:
Some types of SCA are caused by repeated DNA sequences (triplet repeats). Special tests are needed to confirm these types.
💡 Cost of Testing (as of February 2025):
✔ MRI Scan: ₹5,000 – ₹10,000
✔ Genetic Test: ₹15,000 – ₹30,000 (depends on the type of SCA)
✔ Results in 2 to 3 weeks
How is Spinocerebellar Ataxia Treated?
There is no cure for SCA, but treatment can help manage symptoms and improve daily life.
Treatment Options:
🔹 Physical Therapy – Exercises to improve balance and muscle strength.
🔹 Speech Therapy – Helps improve speech and swallowing issues.
🔹 Occupational Therapy – Helps with daily activities like eating and dressing.
🔹 Medications – Can help with muscle stiffness, tremors, and balance problems.
🔹 Mobility Aids – Canes, walkers, and wheelchairs can help with walking.
🔹 Eye Exercises – Special exercises to help with eye movement issues.
💡 Starting therapy early helps patients stay independent for longer.
FAQs on Spinocerebellar Ataxia
💡 What causes Spinocerebellar Ataxia?
SCA is caused by mutations (changes) in certain genes that control how nerve cells work. These mutations damage nerve cells in the cerebellum, leading to poor balance and coordination.
💡 Is Spinocerebellar Ataxia inherited?
Yes. SCA is usually passed down from parents to children. If one parent has SCA, there is a 50% chance their child will have it too.
💡 What is anticipation?
Anticipation means that symptoms start earlier and are more severe in the next generation. For example, if a parent develops symptoms at 40, their child may develop them at 30 or even earlier.
💡 Can Spinocerebellar Ataxia be diagnosed before symptoms appear?
Yes. Genetic testing can confirm SCA even before symptoms start.
✔ If someone in your family has SCA, other family members should consider genetic testing.
✔ Early diagnosis helps with planning and symptom control.
💡 Can Spinocerebellar Ataxia be diagnosed before birth?
Yes. If a parent has SCA, prenatal testing (amniocentesis or CVS) can check if the baby has inherited the condition.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Spinocerebellar Ataxia live normal lives?
Yes. While SCA worsens over time, many people live for decades with proper care.
✔ Physical and speech therapy can improve daily functioning.
✔ Mobility aids and supportive devices allow for greater independence.
✔ Early diagnosis and treatment help manage symptoms better.
💡 What happens if Spinocerebellar Ataxia is not treated?
Without proper care, SCA can lead to:
✔ Loss of ability to walk or speak
✔ Trouble swallowing and breathing
✔ Depression and social isolation
💡 Early therapy and medication help slow down these problems.
Genetic Testing and Counselling for Spinocerebellar Ataxia
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ MRI and neurological exams for early diagnosis
✔ Genetic testing for SCA mutations
✔ Physical and speech therapy programs
✔ Counseling for families and at-risk individuals
✔ Online consultations for remote patients
If you or a family member has trouble with balance, walking, or speech, early diagnosis and treatment can improve quality of life.
Join Us in Spreading Awareness!
Spinocerebellar Ataxia can be managed with early diagnosis and proper care. Spreading awareness about genetic testing and symptom management can help affected families live better lives.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right support.
For expert advice on genetic testing, counselling, or SCA care, contact Dr. Roshan Daniel at KIMSHealth today! 💙