This book describes Pompe Disease, Diagnosis and Treatment and Related Diseases

The film Extraordinary Measures is based on the true story of John and Aileen Crowley, whose children have Pompe disease.

By the year 2000, with the help of a scientist friend, John Crowley raised enough money to start a small biotech company in the hopes of finding a cure for Pompe disease.

His company helped to develop Myozyme, a drug used for treating Pompe disease, which became the first generation therapy that three years later their children received

Since then more than 1000 infants born worldwide every year with Pompe disease will no longer face the prospect of death before reaching their first birthday due to inadequate treatment.

Pompe disease is a genetic disorder caused by the buildup of a complex sugar termed glycogen in the body's cells.

The collection of glycogen in certain organs and tissues, particularly muscles, weakens their ability to function normally.

There are 2 major types of Pompe disease which differ in severity and the age at which they appear: early-onset and late-onset.

The infantile onset is often linked with a faster disease progression and severity than late onset.

Infantile onset Pompe disease (IOPD) or early Pompe disease comprises 2 types:

Classic onset: a baby shows symptoms within the first few months after birth

Infants with this disorder normally have muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart disorders.

Involved infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems.

If untreated, this type of Pompe disease leads to death from heart failure in the first year of life.

Non-classic onset: a baby is likely to show signs of the rare disease closer to age 1

It is featured by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness.

The heart may be abnormally enlarged (cardiomegaly), but involved patients usually do not experience heart failure.

The muscle weakness in this disease leads to serious breathing difficulties, and most children with non-classic IOPD live only into early childhood.

This type of Pompe disease is linked with a complete or near-complete deficiency of GAA.

This indicates that the person has very little or none of the enzyme required to help the body break down glycogen.

Late-onset Pompe disease (LOPD) or juvenile and adult Pompe disease, is linked with a partial deficiency of GAA.

LOPD may not become obvious until later in childhood, adolescence, or adulthood.

Compared with IOPD, this type takes a longer time before symptoms appear.

People with LOPD may start noticing symptoms as early as their first decade of life or as late as their sixth decade.

LOPD is milder than the infantile-onset forms of this disorder and is less likely to involve the heart.

Most persons with LOPD have progressive muscle weakness, particularly in the legs and the trunk such as the muscles that regulate breathing.

As the disorder advances, breathing difficulties can result in respiratory failure.

This type of Pompe disease does not damage the heart like IOPD.

The cause of Pompe disease is mutations in the GAA gene.

Acid alpha-glucosidase (GAA) enzyme assay and gene sequencing verifies the diagnosis

Enzyme replacement therapy (ERT) has been approved to treat all people with Pompe disease.

Gene therapy is another choice for treating Pompe disease.

TABLE OF CONTENT

Introduction

Chapter 1 Pompe Disease

Chapter 2 Causes

Chapter 3 Symptoms

Chapter 4 Diagnosis

Chapter 5 Treatment

Chapter 6 Prognosis

Chapter 7 Von Gierke disease

Chapter 8 Glycogen Storage Disease

Epilogue