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Pontocerebellar hypoplasia with infantile spinal muscular atrophy

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Introduction

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates. More detailed information about the symptoms, causes, and treatments of Pontocerebellar hypoplasia with infantile spinal muscular atrophy is available below.

Symptoms of Pontocerebellar hypoplasia with infantile spinal muscular atrophy

Home Diagnostic Testing

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Wrongly Diagnosed with Pontocerebellar hypoplasia with infantile spinal muscular atrophy?

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Related Patient Stories

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Complications

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Causes of Pontocerebellar hypoplasia with infantile spinal muscular atrophy

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Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Pontocerebellar hypoplasia with infantile spinal muscular atrophy

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over...read more »

Rare type of breast cancer without a lump: There is a less common form of breast cancer called inflammatory breast cancer. Its symptoms can be an inflammation of the breast tissue, such as with a breast rash with redness and...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff" around the arm to measure blood pressure...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia (such...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in ...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of Vitamin B12...read more »

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Research Doctors & Specialists

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Hospitals & Clinics: Pontocerebellar hypoplasia with infantile spinal muscular atrophy

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Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Rare Types

Rare types of diseases and disorders in related medical categories:

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Animations

Pontocerebellar hypoplasia with infantile spinal muscular atrophy: Broader Related Topics

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