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Pompe Disease: Symptoms, Treatment and Support in India
Pompe disease is a rare inherited disorder in which a sugar called glycogen builds up in the muscles, weakening the limbs, the breathing muscles and, in babies, the heart. Enzyme replacement therapy is available, and early diagnosis makes a big difference.
Key facts
Cause
Deficiency of the enzyme acid alpha-glucosidase (GAA gene)
Inheritance
Autosomal recessive
Mainly affects
Skeletal and breathing muscles and, in babies, the heart
How common
About 1 in 40,000 births worldwide; rates vary between populations
Treatment
Enzyme replacement therapy (ERT) with breathing and supportive care
LSDSS community
20+ registered Pompe families across India
On this page:
Overview
What is Pompe disease?
Pompe disease, also called glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder. The body cannot break down glycogen, a complex sugar, because of a deficiency of the enzyme acid alpha-glucosidase (GAA).
Glycogen builds up inside the lysosomes of cells, especially muscle cells. Over time this damages the muscles used for movement, the diaphragm and other breathing muscles and, in babies, the heart.
Pompe disease can begin at any age, from the first months of life to late adulthood. The earlier it starts, the faster it usually progresses.
Video: Pompe disease explained (credit: Osmosis)
Pompe disease in India
Pompe disease is thought to be underdiagnosed in India. Its early signs, such as muscle weakness, frequent falls or breathing problems, are often mistaken for muscular dystrophy or other more common conditions, which delays the right tests.
Babies with infantile-onset Pompe disease need to start treatment as early as possible, so awareness among parents and paediatricians is vital. A simple dried blood spot test can screen for the condition.
Did you know?
Starting ERT in the first weeks of life can greatly improve the outlook for babies with infantile-onset Pompe disease.
A floppy baby with feeding difficulty or an enlarged heart should have a GAA enzyme test urgently.
Types of Pompe disease
Doctors group Pompe disease by the age at which symptoms begin and whether the heart is affected.
Classic infantile-onset
Begins within the first few months of life. Babies have severe muscle weakness (“floppy baby”), feeding and breathing difficulties and an enlarged, weakened heart. Without treatment, most do not survive beyond their first year.
Non-classic infantile-onset
Usually appears by the age of one. Children are slow to reach motor milestones such as rolling over and sitting, and their muscles gradually weaken. The heart may be enlarged, but heart failure is less common. Without treatment, breathing problems can be life-threatening in early childhood.
Late-onset
Can begin in childhood, adolescence or adulthood. It causes slowly worsening weakness in the legs, hips and trunk, and in the breathing muscles. The heart is usually not affected.
Signs and symptoms
Symptoms of Pompe disease
Symptoms depend on the age at which the disease begins. Common signs include:
- Muscle weakness, especially in the hips, thighs and shoulders
- Difficulty climbing stairs, running or getting up from the floor
- Frequent falls and an unusual walking pattern
- Shortness of breath, especially when lying down or asleep
- Morning headaches and daytime sleepiness from poor breathing at night
- In babies: floppy muscles, poor feeding, slow weight gain and an enlarged heart
When to see a doctor
Consult a doctor, ideally a neurologist, geneticist or paediatrician, if you or your child has:
- Unexplained, worsening muscle weakness
- Breathing problems or frequent chest infections
- A raised CK (creatine kinase) level in blood tests
- A floppy baby with feeding difficulty or an enlarged heart
Pompe disease is often mistaken for muscular dystrophy, so ask for a GAA enzyme test.
Causes
What causes Pompe disease?
Pompe disease is caused by changes (mutations) in the GAA gene. This gene gives the body instructions to make the enzyme acid alpha-glucosidase, which breaks down glycogen inside lysosomes.
When the enzyme is missing or works poorly, glycogen builds up and damages muscle cells. The less enzyme activity a person has, the earlier and more severe the disease tends to be.
How it is inherited
- It is inherited in an autosomal recessive pattern.
- Parents of an affected child are usually healthy carriers of one faulty copy of the gene.
- When both parents are carriers, each pregnancy has a 1 in 4 (25%) chance of an affected child.
- Genetic counselling and carrier testing can help families understand their risk and plan.
How is Pompe disease diagnosed?
Simple blood tests can point to Pompe disease. Early testing is especially important for babies.
01
Enzyme test
A blood test, often on a dried blood spot, measures GAA enzyme activity. Low activity suggests Pompe disease.
02
Genetic test
Confirms changes in the GAA gene. It also helps test family members and plan future pregnancies.
03
Supporting tests
A raised CK level in the blood and a raised level of a sugar called Hex4 in the urine support the diagnosis and help monitor treatment.
04
Heart, lung and muscle tests
An echocardiogram and ECG check the heart, lung function tests check breathing, and muscle MRI or EMG may be used. A muscle biopsy is rarely needed today.
Treatment for Pompe disease
There is no cure yet, but enzyme replacement therapy can slow the disease and, in babies, save lives.
Enzyme replacement therapy (ERT)
The missing enzyme is given as an intravenous infusion, usually every two weeks, for life. ERT can improve heart function in babies and help stabilise muscle strength and breathing in older children and adults. It works best when started early.
Medicines include
- Alglucosidase alfa (Myozyme®/Lumizyme®)
- Avalglucosidase alfa (Nexviazyme®)
- Cipaglucosidase alfa (Pombiliti®) with miglustat (Opfolda®), for adults with late-onset Pompe disease
Breathing and heart support
Weak breathing muscles need careful monitoring and support.
This can include
- Night-time breathing support (BiPAP) or ventilation
- Chest physiotherapy, and vaccines to prevent infections
- Regular heart check-ups for babies
Supportive and long-term care
A team of specialists helps patients stay as active and independent as possible.
This can include
- Physiotherapy and gentle exercise
- Nutrition and feeding support, including feeding tubes for some babies
- Speech and swallowing therapy
- Orthopaedic care for scoliosis
Some babies, described as CRIM-negative, make no natural GAA protein and can develop antibodies that make ERT less effective. They may need extra treatment to calm the immune response, so CRIM status should be checked at diagnosis. Gene therapies are also being studied.
Clinical trials and studies in India
Studies of Pompe disease that are recruiting, or about to recruit, in India. This list updates automatically every day.
- Pompe Disease Registry ProtocolSites in India: Ahmedabad, Kolkata, Secunderabad, Vellore
Last checked 10 November 2026 on ClinicalTrials.gov. Always talk to your doctor before joining a study.
Accessing treatment in India
Getting treatment and financial support
ERT for Pompe disease is lifelong and very expensive. Because the dose depends on body weight, it can cost from several lakhs to a few crore rupees a year. These are the main sources of help.
Government support (NPRD)
Pompe disease is listed under the National Policy for Rare Diseases. Eligible patients can receive financial assistance of up to ₹50 lakh for treatment at a designated Centre of Excellence (COE).
- Visit your nearest COE with all medical reports
- Assistance is subject to approval
- The ₹50 lakh limit may not cover lifelong treatment
Other sources of help
- State government schemes
- Corporate social responsibility (CSR) funding
- Crowdfunding through the government rare disease portal
- Charitable access programmes (limited places)
How LSDSS helps
- Connects patients with COEs and specialists
- Guides families through funding applications
- Shares updates on support programmes
- Brings patients and caregivers together
Frequently asked questions
Answers to common questions about Pompe disease.
Still have a question?
A rare inherited disorder in which a deficiency of the enzyme acid alpha-glucosidase (GAA) causes glycogen, a complex sugar, to build up in muscle cells. It weakens the muscles used for movement and breathing and, in babies, the heart.
In adults and older children (late-onset Pompe disease), the main signs are slowly worsening weakness in the hips, thighs and trunk, difficulty climbing stairs or getting up from the floor, and weak breathing muscles, which can cause shortness of breath, morning headaches and daytime sleepiness. The heart is usually not affected.
There are three main types: classic infantile-onset, which begins in the first months of life and affects the heart; non-classic infantile-onset, which begins by the age of one; and late-onset, which can begin in childhood, adolescence or adulthood and mainly affects the limb and breathing muscles.
It depends on the type and on how early treatment starts. Without treatment, most babies with classic infantile-onset Pompe disease do not survive their first year, usually because of heart and breathing failure. With early ERT, many children now live much longer, although some still have muscle weakness. People with late-onset Pompe disease often live into later adulthood, and treatment helps to slow the loss of muscle and breathing function.
Not yet. Enzyme replacement therapy is the main treatment and must be taken for life. Researchers are studying gene therapy and other new approaches.
It is autosomal recessive. A child is affected when both parents pass on a faulty copy of the GAA gene. Parents who are carriers usually have no symptoms. When both parents are carriers, each pregnancy has a 1 in 4 chance of an affected child.
No. Both cause muscle weakness, and late-onset Pompe disease is often mistaken for limb-girdle muscular dystrophy. Unlike most muscular dystrophies, Pompe disease has an approved treatment, so getting the right diagnosis is important.
First, visit your nearest Centre of Excellence (COE) with all medical reports, to be evaluated and enrolled on the Government of India’s rare disease portal for crowdfunding and CSR donations. Second, register with LSDSS for support and the latest information. You can also look for clinical trials for Pompe disease in India.
Other lysosomal storage disorders
LSDSS supports patients and families living with all lysosomal storage disorders.
A fatty substance builds up in nerve cells of the brain and spinal cord.
Sulfatides build up and damage the protective covering of nerves.
A fatty substance builds up in nerve cells and, in babies, in other organs and bones.
Waste material builds up in nerve cells, causing seizures and loss of vision.
Living with Pompe disease?
Register with LSDSS for treatment guidance, support and the latest updates. You are not alone.
This page is for general information and awareness only. It does not replace advice from a qualified doctor. Last reviewed: November 2026.