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Pseudoglycogenosis II

Pseudoglycogenosis II: Introduction

Pseudoglycogenosis II: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. More detailed information about the symptoms, causes, and treatments of Pseudoglycogenosis II is available below.

Symptoms of Pseudoglycogenosis II

Treatments for Pseudoglycogenosis II

  • A heart transplant can cure the heart problem. A pacemaker can help manage heart rhythm problems which can be fatal. Physical therapy may be needed prevent limb movement problems due to muscle weakness. Regular monitoring of the heart condition is essential and genetic counseling is recommended
  • more treatments...»

Home Diagnostic Testing

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Wrongly Diagnosed with Pseudoglycogenosis II?

Pseudoglycogenosis II: Complications

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Causes of Pseudoglycogenosis II

More information about causes of Pseudoglycogenosis II:

Less Common Symptoms of Pseudoglycogenosis II

Pseudoglycogenosis II: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Pseudoglycogenosis II

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...read more »

Heart attacks can be undiagnosed: Although the most severe symptoms of heart attack are hard to miss, there are varying degrees of severity. It is altogether too common for people to die...read more »

Heart attacks can be overdiagnosed: Although many people die from heart attacks, there are also many cases where people fear that they have a heart attack, but actually have something milder. Some of the conditions which may be ...read more »

Rare heart condition often undiagnosed: The rare heart condition called long QT syndrome can lead to episodes of palpitations and rapid heartbeat. In rare cases, this undiagnosed condition can be fatal. It...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 from...read more »

Heart attack can be over-diagnosed: Although heart attack is often undiagnosed, leading to fatality, it can also be over-diagnosed. People become concerned that a condition is a heart attack, whereas there...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 medical conditions, such as a stroke or Alzheimer's...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal...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...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...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 is particularly true of mild traumatic brain injury (MTBI),...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 as Alzheimer's...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 post...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See misdiagnosis of...read more »

Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more...read more »

Pseudoglycogenosis II: Research Doctors & Specialists

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Hospitals & Clinics: Pseudoglycogenosis II

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Choosing the Best Hospital: More general information, not necessarily in relation to Pseudoglycogenosis II, on hospital performance and surgical care quality:

Pseudoglycogenosis II: Rare Types

Rare types of diseases and disorders in related medical categories:

Pseudoglycogenosis II: Animations

Prognosis for Pseudoglycogenosis II

Prognosis for Pseudoglycogenosis II: The extent and severity of the condition is variable - some patients don't have muscle problems or mental retardation. Females are carriers and such tend to have a later onset of symptoms but may still develop quite severe symptoms. Sudden death due to heart failure can occur during the teenage years for males and in the forties for females. Heart symptoms can progress quite rapidly, going from virtually no symptoms to heart failure within six months in some cases. Most male patients die before the age of twenty but female patients can live for up to 40 years or longer.

Pseudoglycogenosis II: Broader Related Topics

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