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Lysosomal glycogen storage disease with normal acid maltase activity

Lysosomal glycogen storage disease with normal acid maltase activity: Introduction

Lysosomal glycogen storage disease with normal acid maltase activity: 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 Lysosomal glycogen storage disease with normal acid maltase activity is available below.

Symptoms of Lysosomal glycogen storage disease with normal acid maltase activity

Treatments for Lysosomal glycogen storage disease with normal acid maltase activity

  • 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

Home medical testing related to Lysosomal glycogen storage disease with normal acid maltase activity:

Wrongly Diagnosed with Lysosomal glycogen storage disease with normal acid maltase activity?

Lysosomal glycogen storage disease with normal acid maltase activity: Complications

Review possible medical complications related to Lysosomal glycogen storage disease with normal acid maltase activity:

Causes of Lysosomal glycogen storage disease with normal acid maltase activity

More information about causes of Lysosomal glycogen storage disease with normal acid maltase activity:

Less Common Symptoms of Lysosomal glycogen storage disease with normal acid maltase activity

Lysosomal glycogen storage disease with normal acid maltase activity: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Lysosomal glycogen storage disease with normal acid maltase activity

Chronic digestive conditions often misdiagnosed: When diagnosing chronic symptoms of the digestive tract, there are a variety of conditions that may be misdiagnosed. The best known, irritable...read more »

Intestinal bacteria disorder may be hidden cause: One of the lesser known causes of diarrhea is an imbalance of bacterial in the gut,...read more »

Antibiotics often causes diarrhea: The use of antibiotics are very likely to cause some level of diarrhea in patients. The reason is that antibiotics kill off not only "bad" bacteria, but can also kill the "good"...read more »

Food poisoning may actually be an infectious disease: Many people who come down with "stomach symptoms" like diarrhea assume that it's "something I ate" (i.e. food poisoning). In fact, it's more likely to be an ...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-diagnosed (it can, of course, also fail to be diagnosed with...read more »

Celiac disease often fails to be diagnosed cause of chronic digestive symptoms: One of the most common chronic digestive conditions is celiac disease, a malabsorption disorder with a variety of symptoms (see symptoms of celiac...read more »

Chronic digestive diseases hard to diagnose: There is an inherent difficulty in diagnosing the various types of chronic digestive diseases. Some of the better known possibilities are peptic ulcer, ...read more »

Lysosomal glycogen storage disease with normal acid maltase activity: Research Doctors & Specialists

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Lysosomal glycogen storage disease with normal acid maltase activity: Rare Types

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Lysosomal glycogen storage disease with normal acid maltase activity: Animations

Prognosis for Lysosomal glycogen storage disease with normal acid maltase activity

Prognosis for Lysosomal glycogen storage disease with normal acid maltase activity: 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.

Statistics for Lysosomal glycogen storage disease with normal acid maltase activity

Lysosomal glycogen storage disease with normal acid maltase activity: Broader Related Topics

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Definitions of Lysosomal glycogen storage disease with normal acid maltase activity:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Lysosomal glycogen storage disease with normal acid maltase activity as a "rare disease".
Source - Orphanet

Contents for Lysosomal glycogen storage disease with normal acid maltase activity:
 

Related Lysosomal glycogen storage disease with normal acid maltase activity Info

More information about Lysosomal glycogen storage disease with normal acid maltase activity

  1. Lysosomal glycogen storage disease with normal acid maltase activity: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Types
  8. Complications
  9. Prognosis
 

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