Home » Health
    Filmi Bollywood
    • Salman Khan, Katrina Kaif, Iulia Vantur & Others Attend Aayush-Arpita's Wedding Anniversary Bash
    • Ranu Mondal Trolled For Getting A Makeover: Twitter Is Divided!
    • Hrithik Roshan's Dancing Video As A Kid Goes Viral; Netizens Can't Get Enough Of His Awesome Moves!
    • Kriti Kharbanda Finally Admits Dating Pulkit Samrat; Says 'I Am In A Very Happy Place'
    • Salman Khan Has Some Important Advice To Share With Fitness Enthusiasts
    • Manushi Chhillar Opens Up About Her Debut Film Prithviraj Opposite Akshay Kumar
    • Rishi Kapoor Wants The Government To Give The Artistes' Community Its Due
    • Rakul Preet Singh Joins The Cast Of John Abraham And Jacqueline Fernandez Starrer Attack
    • Interesting Story: How Did Akshay Kumar Come On Board For Karan Johar's Good Newwz?
    • Aamir Khan Was Very 'Sorry' And 'Upset' When Thugs Of Hindostan Flopped At The Box Office!
    • Good Newwz Trailer Kickstarts Meme Fest And We Can't Stop Laughing!
    • Good Newwz Trailer: Akshay, Kareena, Diljit & Kiara's Goof-up Will Make You Laugh A Lot!
    • Motichoor Chaknachoor Full Movie Leaked Online On Tamilrockers!
    • Fashion Designer Manish Malhotra's Father Passes Away
    • Watch Now: Shah Rukh Khan's Daughter Suhana's First Short Film Is Out & Fans Are Shook!
    • Salman Khan's Hearfelt Post For His Bodyguard Shera: '25 Years & Still Being Strong'
    • Laal Singh Chaddha New Poster: Aamir Khan Leaves A Long-lasting Impression
    • Aaradhya Bachchan's Birthday Bash: Fun-filled Celebrations With Unicorn Cake & Ferris Wheel Rides!
    • RajKummar Rao To Star In The Remake Of The Classic Comedy Chupke Chupke
    • Nandita Das Opens Up About Her Views On The Massive Success Of The Movie Kabir Singh
Pompe Disease: Types, Causes, Inheritance, Diagnosis & Treatment
Boldsky | 14th Oct, 2019 11:13 AM

Pompe disease is a rare and inherited neuromuscular disorder. The condition develops when there is a shortage of the enzyme that naturally processes the glycogen in the body called the glycogen phosphorylase. The lack of this enzyme causes the glycogen to get deposited in the tissue, muscles and organs. The build-up of glycogen causes the muscles and organs to weaken.

Pompe disease is also called acid maltase deficiency or glycogen storage disease type II. The severity of the condition depends on one's age at onset.

Types Of Pompe Disease

The neuromuscular disorder is classified into three types, depending on the severity of the condition and the age of onset. The different type of Pompe disease are as follows:

Classic infantile: The most severe form of the condition, class infantile causes the affected person to have a complete lack of the necessary enzyme to process glycogen. Affecting infants, classic infantile causes the infant to be floppy due to weak muscles. This, in turn, causes heart failure in infants before the age of 2.

Symptoms begin to show in an infant's first three months of life and progress rapidly.

Childhood or non-classic infantile: A milder form of the Pompe disease, the enzyme necessary to produce glycogen is reduced by 70 per cent or less. Children with this condition have delayed motor skills and often require the help of a ventilator to help them breathe. Most children with this type of Pompe disease die of respiratory failure in early childhood .

Symptoms usually appear by the time a child reaches 12 months, and in some cases, it can develop later on as well.

Late-onset: The mildest form of Pompe disease, this condition causes progressive muscle weakness that leads to fatigue. It affects the lower limbs and the trunk muscles. According to studies, about 60 per cent of people with late-onset Pompe disease have a mild reduction in breathing capacity, and 30 to 40 per cent have a moderate reduction. People with late-onset Pompe disease often die as a result of respiratory failure .

The signs of the condition may not appear until adolescence or adulthood and may extend to age 60.

Symptoms Of Pompe Disease

Each type of condition has different symptoms pertaining to it and they are as follows :

The symptoms of the classic type are as follows :

  • Infections in the respiratory system
  • Problems with hearing
  • Poor muscle tone
  • Enlarged liver
  • Failure to gain weight and grow at the expected rate
  • Weak muscles
  • Trouble breathing
  • Feeding problems

The symptoms of childhood or non-classic type are as follows :

  • Breathing problems
  • Motor skills delayed
  • Muscles get steadily weaker
  • Abnormally large heart

The symptoms of late-onset are as follows :

  • Breathing problems
  • Enlarged heart
  • Irregular heart beat
  • Increased difficulty hearing
  • Increasing difficulty in walking
  • Muscle pain over a large area
  • Loss of the ability to exercise
  • Frequent lung infections
  • Shortness of breath
  • Headaches in the morning
  • Tiredness
  • Losing weight
  • Cannot swallow as easily as before
Causes Of Pompe Disease

A genetic disorder, Pompe disease is caused by the inherited mutations in a particular gene on chromosome 17 q25, which is responsible for producing the acid alpha-glucosidase (GAA) enzyme that processes glycogen .

With a lack of the necessary amount of GAA enzyme, the glycogen tends to get accumulated to toxic levels in areas of cells called lysosomes, causing muscle, tissue, and organ damage.

The recessive gene disorder is inherited from the parent to the child. If you inherit one normal gene and one defective gene for Pompe, you will be a carrier of the disease, but you won't have symptoms.

But in the case of both parents being carriers,

  • there is a 25 per cent risk that a child will be born with Pompe disease,
  • there is a 50 per cent risk that a child will be born who is a carrier, like their parents and
  • there is a 25 per cent chance that a child will be born with normal genes .
Complications Of Pompe Disease
  • Hearing loss
  • Drooping eyelids
  • Impaired speech
  • Gastroesophageal reflux
  • Osteopenia
Diagnosis Of Pompe Disease

Doctors will examine the condition depending upon the type of symptoms, as well as by examining your family medical history.

Due to the rare nature of the condition, diagnosis can be difficult, especially with late-onset as it can resemble neuromuscular diseases .

The doctor will carry out a screening chest X-ray, electrocardiogram, and echocardiogram for infants. To confirm the diagnosis, the doctor can order tests to measure the level of the GAA enzyme in dried blood spots, muscles, or skin cells .

A biopsy will also be conducted.

Treatment For Pompe Disease

The medical care provided for Pompe disease depends on age and symptoms. However, once the muscles are destroyed, treatments will no longer be effective .

The treatments prescribed for the condition are as follows:

  • Enzyme replacement therapy
  • Physical therapy to strengthen muscles for breathing and building up strength
  • Braces, and other orthopaedic appliances to also help mobility
  • Speech therapy when oral and breathing muscles are affected
  • Breathing assistance, including ventilators
  • Surgery
  • Feeding tubes to ensure adequate nutrition
  • Special diets

A rare and deadly disease, Pompe disease has no cure. The treatments can help relieve the symptoms and better the condition of the individual. For those with the later-onset disease, the outlook is better. Because, the later the symptoms appear, the more slowly the disease progresses .

Health and Life
  • 6 Surprising Health Benefits Of Black Sapote
  • Erythritol: Health Benefits And Side Effects
  • Dysphagia (Swallowing Difficulty): Types, Symptoms, Causes, Risk Factors, Diagnosis And Treatment
    • Is Dosa Good For A Weight-loss Diet?
    • 10 Best Quadriceps Exercises To Strengthen Your Thighs
    • 6 Impressive Health Benefits Of Buckwheat Tea
      • Heat Exhaustion: Types, Symptoms, Causes, Risk Factors, Diagnosis, Treatment And Prevention
      • Diabetes Insipidus In Children: Causes, Types, Symptoms, Diagnosis And Treatment
      • World Diabetes Day 2019: Best And Worst Drinks For Diabetes
        • Diabetes-friendly Indian Diet: A 7-day Vegetarian And Non-vegetarian Meal Plan
        • Diabetes Insipidus: Causes, Symptoms, Diagnosis, Treatment And Prevention
        • World Diabetes Day 2019: Expert Tips To Eat Right And Manage Diabetes
          • Juvenile Diabetes: Symptoms, Causes, Risk Factors And How To Manage
          • Kava: Health Benefits, Side Effects And How To Use
          • Diabetic Foot Ulcers: Causes, Types, Symptoms, Diagnosis, Treatment And How To Prevent Them
            • Syphilis: Causes, Symptoms, Diagnosis & Treatment
            • 11 Proven Health Benefits Of Honeybush Tea
            • 10 Surprising Health Benefits Of Nectarines