How Physical Therapy and Aquatic Therapy Help Limit Rare Disease Progression

 


Rare diseases are defined as physical or mental disorders that have limited prevalence or occurrence in a particular region. This means what is considered rare in one part of the world may be common in another part. Surprisingly India has nearly one-third of all the rare disease cases in the world.

But what’s disheartening is the fact that very little attention is given to providing proper treatment to people who have rare diseases. This majorly happens due to a lack of knowledge and awareness. 

The pain of seeing your loved ones lead a challenging life with certain health conditions is devastating in itself. Additionally, a lack of proper guidance about treatment options can leave you feeling helpless. 

So, if you want to learn about rare diseases, their cause, and treatment options, continue reading this blog.

Rare Disease Types

According to medical researchers, there are over seven thousand types of rare diseases. Most of these disorders are caused due to genetic mutation. However, some are the result of exposure to autoimmune disorders and infection.

Following are some common types of the rare diseases prevalent in India:

  1. Muscular Dystrophy

It consists of a set of hereditary illnesses that lead to muscle weakening and tissue atrophy. Additionally, they have the potential to damage nerve tissue. There are multiple types of muscular dystrophy, such as congenital muscular dystrophy, Duchenne muscular dystrophy, becker muscular dystrophy, etc. Each type causes a decrease in strength, an increase in incapacity, and perhaps even deformities.

Common symptoms of this disorder include the following:

  • Enlarged calf muscles.

  • Problems while walking or running.

  • Trouble swallowing.

  • Unusual walking gait.

  • Heart problems, like arrhythmia or heart failure.

  • Loose or stiff joints.

  • Learning disabilities.

  • Muscular pain.

  • Breathing issues.

  • Curved spine.


  1. Motor Neuron Disorders

The brain and nerves are impacted by this rare disorder. It results in muscular weakness that progressively worsens with time.

Although there is no known cure for MND, there are therapies that can lessen how it affects a person’s day-to-day activities. Some people have had this ailment for a very long time, which shows the following symptoms:

  • Weakness in the ankle and legs reduces one’s ability to walk and climb stairs.

  • Slurred speech may progress to cause difficulty while swallowing certain foods.

  • A weak grasp causes the dropping of objects, difficulty opening jars, or zipping up clothing.

  • Muscular twitches and cramps.

  • Unexplained weight loss - over time due to thinning of arm and leg muscles. 

  • Problems controlling tears or laughter.


  1. Ankylosing Spondylitis

Ankylosing spondylitis is an inflammatory condition that over time may lead to the fusion of certain vertebrae in the spine. The spine becomes less flexible as a result of this fusing, which may cause a hunched posture. It could be challenging to breathe deeply if your ribs are hurt.

Lower back and hip discomfort and stiffness may be the first signs and symptoms of ankylosing spondylitis, especially in the morning and after periods of inactivity. Fatigue and neck aches are also frequent. At sporadic periods over time, symptoms may get better, get worse, or stop altogether.

The regions most frequently impacted are:

  • Connection between the pelvis and the base of the spine.

  • Shoulder and hip joints.

  • Back of the heel, are the points where tendons and ligaments join to bones.

  • The joint between the ribs and the breastbone.


  1. Transverse Myelitis

A spinal cord segment with inflammation on both sides is known as transverse myelitis. The insulating substance protecting nerve cell fibres is frequently harmed by this neurological condition (myelin).In this condition, the messages that the spinal cord nerves transmit throughout the body get disrupted. 

  • The common symptoms of myelitis are: 

  • Sudden pain originates in the lower back, which progresses to the legs, arms, or abdomen.

  • Abnormal sensation of tingling, numbness, extreme cold, or heat.

  • Heaviness in legs or arms resulting in difficult movement.

  • Frequent or problematic bladder and bowel movements.


  1. GB Syndrome

Guillain-Barre syndrome (GB syndrome) occurs when the body’s immune system attacks the nerves. Usually, the initial signs are weakness and tingling in the hands and feet.

These symptoms can spread swiftly and ultimately paralyse the entire body. Guillain-Barre syndrome is a medical emergency in its most severe form.

Guillain-Barre syndrome symptoms and signs can include:

  • A feeling of prickling needles in the fingers, toes, ankles, or wrists.

  • Upper body weakness starts in the legs.

  • Having difficulty walking or climbing stairs.

  • Difficulty speaking, chewing or swallowing.

  • Inconvenience while moving facial muscles.

  • Double vision or difficulty moving the eyes.

  • Severe pain that may be worse at night and feel achy, shooting, or cramplike.

  • Difficulty controlling one’s bowels or bladder.

  • Uncontrolled heartbeat.

  • High or low blood pressure.

  • Having trouble breathing.


  1. Spina Bifida

It is a birth defect that results due to improper formation of the spinal cord. Generally, the neural tube in a developing embryo closes after 28 days of conception. However, in certain situations, this process doesn’t complete which results in problems with the spinal bone. People with spina bifida require medical treatment throughout their life to maintain healthy living.           

Children are diagnosed with this condition at their birth when they show the following sign and symptoms:

  • A small dimple,  a tuft of hair, or a birthmark at the middle section of the lower back.

  • Problems with bladder or bowel function.

  • Exposed spinal cord at the lower section.

  • At birth, the membranes and spinal cord or nerves both protrude, which creates a sac.

                                                                                                                                                                                                                                                                                                                                   

  1. Down Syndrome

An extra chromosome in the embryo development causes this disorder. People with this condition face difficulty with intellectual development. 

In the human body, chromosomes are discrete “packages” of genes. They control how a baby’s body develops during pregnancy and after birth, determining how it will look and work. A newborn typically has 46 chromosomes. However, one of these chromosomes, chromosome 21, has an extra copy in infants with Down syndrome.

Common signs and symptoms of down syndrome are:

  • Flattened face, primarily at the bridge of the nose.

  • Short neck.

  • Slant upward pointed eyes.

  • Smaller than normal ears.

  • Tongue that sticks out of the mouth.

  • Shorter feet and hands.

  • Single line on the palm.

  • White spots on the iris.

  • Loose bone joints and poor muscle tone.

  • Short height.


  1. Botulism

Botulism, often known as botulism poisoning, is a rare but serious sickness that can spread through contaminated food, polluted soil, or open wounds. Without prompt medical attention, botulism can cause paralysis, breathing problems, and even death.

There are three basic forms of botulism namely, botulism in infants, foodborne botulism, and wound botulism. Additionally, they have different symptoms.

Infant botulism shows the following symptoms:

  • Constipation.

  • Tiredness.

  • Irritability.

  • Difficulty feeding.

  • Drooling.

  • paralysis.

  • drooping eyelids

  • loss of head control.

  • Floppy movements caused by weak muscles.

Wound and foodborne botulism present the following symptoms:

  • Difficulty speaking or swallowing.

  • Weakness of facial muscles on both sides.

  • Blurred vision

  • Trouble breathing

  • Nausea, vomiting, and abdominal cramps due to food infected by bacteria.

  • Paralysis


  1. Spinal Muscular Atrophy

Spinal muscular atrophy or SMA is a neuromuscular illness that results in deteriorating muscles. Motor neurons, a particular class of nerve cells in the spinal cord that regulate muscle movement, are lost in people with SMA. Without these motor neurons, nerve signals that cause muscles to contract are not sent to the muscles.

Typical symptoms of SMA are:

  • Loss of muscular strength, mobility, and control that progresses steadily with time.

  • Inability to walk, stand, or sit.

  • Some people gradually lose entire muscular mobility and strength, which makes them completely disable.


  1. Myositis

The term “myositis” refers to a collection of uncommon diseases. It is typically brought on by an immune system issue wherein healthy tissue is wrongly attacked.

Primary signs and symptoms experienced by people with this disorder include aching, sore, or weak muscles. Usually, over time, their condition steadily deteriorates. Moreover, they may stumble, fall, and get exhausted after standing or walking. Other symptoms of myosotis are:

  • Problem standing or sitting.

  • Difficulty while swallowing food.

  • Feeling depressed or unhappy.

  • Red or purple rash on face and hands.


Want to know the benefits of Hydrotherapy for Cerebral Palsy? Click the link now: https://youtu.be/2mY2lDkndDM

Benefits of Physical and Aquatic Therapy in Rare Disease Treatment

Exercise has numerous psychological and physical advantages, including the preservation of muscle strength, the prevention of contractures, increased flexibility, decreased energy expenditure, relief from fatigue, the reduction of pain, the reduction of depression, the reduction of social isolation, the maintenance of mobility, and an improvement in quality of life.


Click this link to learn about the benefits of Hydrotherapy in Ankylosing spondylitis: https://youtu.be/vkMaZyGv80k 


For rare disease treatment therapists recommend a combination of land and water exercises because they control the progression of certain conditions in the following ways:

  • Repeated stretching of affected body parts improves blood circulation and strengthens weak muscles. Additionally, a 5-minute static stretch brings efficient changes in the muscle-tendon unit.

  • Progressive strength training exercises help people suffering from rare neuromuscular diseases by increasing muscle strength. 

  • People with rare muscular and neurological disorders face problems while moving their bodies because of pain and limited strength. Water buoyancy offers support by reducing weight. This ultimately makes aquatic exercises much more convenient.

  • Therapists are trained professionals who help patients maintain appropriate posture during land and aquatic exercises. This way physical exercises reverse the progression of diseases.

  • Many rare diseases cause difficulty breathing. By taking regular sessions of physical and hydrotherapy people to improve their respiratory function. This helps improve their breathing ability.

  • Properly designed exercise sets by physiotherapists reduce muscle and joint stresses, which lowers the intensity of pain caused by rare diseases.

  • Patients learn to balance their bodies while walking. Thus physical exercises reduce the chances of falling or tripping that is common in various rare diseases.


Conclusion 

Living with a rare disease is extremely challenging. One has to bear excruciating pain and may require dependency to perform various tasks. However, with proper treatment, it is possible to limit the complications of these conditions and lead a painless and prosperous life. 


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