Cerebral Palsy Misdiagnosis

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A cerebral palsy misdiagnosis occurs when a doctor diagnoses a child with CP when they really have another condition with similar symptoms. It is also possible for a child with CP to go undiagnosed for years. Both situations are harmful to the child who needs prompt and appropriate treatment.

How Can Cerebral Palsy Be Misdiagnosed?

Cerebral palsy is not a single disease. CP is a set of neurological symptoms that vary by individual but involve motor impairments. The underlying cause is damage to or malformation of the developing brain, occurring during fetal development, childbirth, or shortly after birth.

The causes of brain damage and the resulting symptoms are numerous, which is why it can often be difficult to diagnose cerebral palsy. There are many genetic, neurological, and metabolic conditions that have similar symptoms.

Why Is It Important to Get the Correct Diagnosis?

Many of the conditions that mimic cerebral palsy are rare but together they make up a large group of potential misdiagnoses.

The main reason it is so important to get the right diagnosis is so that the child can benefit from the right treatment. That includes not only medications but also referrals to the appropriate specialists and therapists. Some of the other conditions that might be confused with CP are highly treatable, but the course of care must match that of the disease.

Parents and families need to know the exact condition their child has in order to provide them with the best home care. With the correct diagnosis, they can learn about the condition and know what to expect as their child grows and develops.

Genetic counseling is another factor in the equation. Depending on the child’s diagnosis, genetic testing might be appropriate. It can help parents determine the risk to future children and have the option to get prenatal testing.[1]

Does My Child Need a Second Opinion for a Diagnosis of Cerebral Palsy?

If your child exhibits troubling symptoms and developmental delays, you have good reason to be concerned. If you feel that any of the symptoms are similar to those of cerebral palsy, but your doctor does not diagnose it, you might want a second opinion.

It is reasonable to seek out a second opinion. Turn to developmental and neurological specialists in pediatrics if you have questions about your child’s diagnosis (or if your child has not been diagnosed with a condition and you are told to wait). Subtle signs of CP can be difficult to see, even by pediatricians, until a child is a year of age or older.

Disorders Mistaken for Cerebral Palsy

Some of the many possible symptoms and complications of cerebral palsy include:[2]

• Stiff, rigid muscles
• Spastic movements, exaggerated reflexes
• Muscle weakness and floppy movements
• Tremors
• Difficulties with balance and coordination (ataxia)
• Slow and writhing movements
• Difficulty walking
• Favoring one side of the body
• Delayed motor development (rolling over, sitting, crawling)
• Delayed fine motor skills
• Delayed speech
• Difficulty swallowing and eating
• Excessive drooling
• Delayed growth (weight, height, head size)
• Learning and intellectual disabilities
• Seizures
• Hearing and vision loss
• Bladder and bowel problems
• Emotional and behavioral conditions

There are many other possible symptoms and associated conditions that a child with CP might have. This large number of symptoms means many are shared with other conditions, which can potentially lead to a misdiagnosis:[1]

Duchenne Muscular Dystrophy (DMD)

DMD causes severe and progressive muscle weakness, developmental delays, and abnormal walking. It results from a genetic mutation and is more common in boys. It does not cause intellectual dysfunction. Life expectancy is unfortunately short for children diagnosed with DMD.

Dopa Responsive Dystonia (DRD)

Dystonia, involuntary contractions that cause writing and repetitive movements, are less common in CP than spastic movements. But they do occur and can sometimes lead to a misdiagnosis.

DRD looks a lot like dystonic CP, but it can be treated with a single drug, L-dopa. There are even cases of patients misdiagnosed with CP for decades whose symptoms were resolved once a doctor realized they had DRD and started them on medication.[3]

Arginase Deficiency

This rare genetic condition causes a lack of arginase, an enzyme essential to the urea cycle, part of the body’s metabolism. The result is a buildup of the amino acid arginine and ammonia. Symptoms include developmental delays, muscle spasticity, tremors, poor balance, and seizures. Treatment includes dietary changes and medications.[4]

Rett Syndrome

Rett syndrome is a rare neurodevelopmental condition in girls that manifests symptoms similar to CP: loss of muscle tone, jerky movements, hand wringing, difficulty walking, seizures, and loss of the ability to speak. A genetic test can confirm a diagnosis of Rett syndrome, but there is no cure. Like CP, treatment aims to manage symptoms.[5]

Metachromatic Leukodystrophy

Another rare genetic condition, metachromatic leukodystrophy causes certain fats to build up in the brain, spinal cord, and nerves. Symptoms usually begin in babies and toddlers and include stiff muscles, difficulty walking and talking, ataxia, seizures, and intellectual dysfunction. Blood and genetic tests can be used to diagnose this condition, while treatments manage but do not cure it.[6]

Pelizaeus-Merzbacher (P-M) Disease

P-M disease is another genetic leukodystrophy (affecting the white matter in the brain and spinal cord) that causes motor impairments due to muscle weakness and developmental delays similar to those seen in some forms of CP. A characteristic of the disease not seen in CP is a type of involuntary oscillating movement of the eyes called nystagmus. Genetic testing and MRI can be used to diagnose this disease.[7]

Hereditary Progressive Spastic Paraplegia (HSP)

HSP is a group of genetic disorders that cause weakness and spasticity in the legs. It can be accompanied by other conditions also common to cerebral palsy, ranging from mild to severe: seizures, ataxia, and intellectual impairment. Like cerebral palsy, symptoms vary from mild to severe. Treatments are focused on managing the symptoms because there is no cure.[8]

Lesch-Nyhan Syndrome

This genetic metabolic condition causes uric acid to build up in the body. Symptoms include involuntary muscle movements, spasticity, learning difficulties, and behavior problems. One notable sign is the presence of orange crystals in the urine. There is no cure for this condition.[9]

Ataxia Telangiectasia

AT is a genetic neurodegenerative condition that causes ataxia, the poor coordination and balance often seen with CP. Symptoms typically begin in infancy and also include drooling, difficulty talking involuntary eye movements, and frequent upper respiratory infections (due to immune dysfunction).[10]

Nieman-Pick Disease Type C

This genetic condition prevents the cells from transporting fats and cholesterol normally, resulting in a variety of complications. Unlike CP, it is a progressive condition, meaning its effects increase over time as the substances accumulate within the body.

Symptoms can begin in infancy or later and may be similar to those of CP, including decreased muscle tone, ataxia, tremors, developmental delays, cognitive impairment, and sometimes seizures.[11]

These are just some of the many genetic and other types of conditions with symptoms that overlap with those of cerebral palsy. Most of these are rare but possible, so genetic testing is often necessary to identify or rule out a condition.

Can You Have Undiagnosed Cerebral Palsy?

Another concern for parents is that a child can go through life with undiagnosed cerebral palsy or with a misdiagnosis.

Children with CP have the best outcomes when interventions are started early in development, which is why it is so important to get the diagnosis as soon as possible.

If your child has symptoms or developmental delays for an undetermined reason, push for a more thorough investigation (e.g., genetic testing, specialist evaluation) to look for an accurate diagnosis.

At What Age Does Cerebral Palsy Become Noticeable?

When CP first becomes noticeable depends on its severity, which can vary significantly by individual. A child born with severe CP will likely show signs immediately after birth. In those with milder cases, the signs might not be obvious until the child is two or three years old.

Pediatricians typically screen children at every well-child visit but more formal screening for developmental delays is done at 9, 18, and 24 or 30 months. Many early signs are clear when approaching one year of age when most babies have started crawling and are attempting to walk. If a child has any delays, they should be obvious by at least 30 months.[12]

What Are the Early Symptoms of Cerebral Palsy?

An infant six months or younger might show signs of CP that include:[13]

• Inability to hold up their head
• Stiff legs when picked up
• Floppy limb movements
• Arching their back when held

Between six months and one year of age, CP might manifest as:[13]

• Being unable to roll over
• Delay in sitting up or inability to sit alone
• Being unable to bring their hands to the mouth
• Reaching only with one hand and not the other
• Scooting or lopsided motion while crawling and/or delay in learning to crawl

An older baby with CP might have delays in sitting up, crawling, and standing, even with support. They might have a side preference or appear to be using one side of their body more. If you notice these signs in your baby, talk to your pediatrician right away.

How Do Doctors Diagnose Cerebral Palsy?

Unfortunately, there is no single definitive test for cerebral palsy. Doctors monitor and screen babies and children for developmental milestones regularly. If they see delays, various diagnostic techniques can be used to rule out or identify conditions like cerebral palsy.

If a pediatrician suspects CP, they will enlist the assistance of specialists to make a definitive diagnosis. These include developmental pediatricians, pediatric neurologists, and other neurodevelopmental specialists.[12]

Specialists use several tools, including imaging, such as MRIs and CT scans. These do not necessarily show CP, but they can help clinicians to evaluate for characteristic changes seen in CP and other conditions, which can contribute to making the diagnosis. Metabolic and genetic testing may also be used to rule out other causes of symptoms.

Diagnosing cerebral palsy is often complicated and far from straightforward. It is possible to misdiagnose a rarer condition as CP, so parents must push for more testing and greater accuracy if they have concerns. Don’t hesitate to ask for a second opinion or see a neurologist or developmental specialist if you have questions about your child’s diagnosis.