Facioscapulohumeral muscular disease

The facioscapulohumeral muscular disease causes weakness of muscles and it can cause loss of muscle tissue. It is a genetic disease that can be inherited and can be caused due to mutation in the gene.

What is facioscapulohumeral muscular disease

The name of facioscapulohumeral explains the exact meaning of this disease. Facio refers to the face, scapula refers to the shoulder blade, and humeral refers to the upper arm. These three actually tells about the areas which are mainly affected by this disease.

This disease most commonly attacks the upper part of the body includes face muscles, shoulder muscles, and upper arm muscles. This disease is on the third number in the genetic disorder of skeleton muscles. In this muscle disease firstly weakness appears on the one side of the body and it is most commonly start on the right of the body. This is a genetic disease and is caused by mutation or fault on chromosome number 4 or by the removal of some DNA from chromosome number 4.

This disease is a dominant genetic disease which shows that the new generation has 50 percent chances to get a disease or to get affected chromosome which is chromosome number 4 from infected mother but also have percent chance to get a normal healthy DNA. This disease can appear or can be detected at an early age or in teenagers. At this age, infected people can feel difficulty in moving a facial muscle or on muscles around their shoulder or upper arms.

In the starting, this disease commonly affects the one side of the body and in most cases, it affects the right side of the body. The severity of this disease is not the same in all the members of the family, it can vary from member to member.

This can be found in the face or varies in the neck, forearms, wrist, fingers, ankles, shoulders, legs, and in muscles present at the back of the body. Most of the persons who are suffering from this disease use a wheelchair to move because they are at the peak of this disease. This disease can be diagnosed at the early age of childhood. This disease is less likely to be found in the female members of the family but more likely to be found in the male members of the family. Doctors suggested the specific type of drugs and exercise to cure this disease.

This disease is one of the common diseases of the skeleton muscle. It can be said that every three or five persons are suffering from this disease. And according to research 20 to 30 percent of people who are suffering from this disease use wheelchairs due to the severity of this disease. At this stage people may get severe chest infections, respiratory disorders, permanent damage of tissue of a skeletal muscle or the blockage of movement of muscle permanently.

The facioscapulohumeral muscular disease can also badly affect the eyes muscles. The people may suffer from the ulceration of the cornea of the eyes. Some people also find difficulty in regular blinking of eyes, as a result, these people lose their ability to completely close their eyes during blinking at day time or during sleeping at night time.

Some people also find difficulty in their respiratory functions; they are unable to breathe properly, due to which they can also suffer from chest infections. They also feel difficulty in swallowing food due to the weakness of muscles present around the neck and throat.

Types of facioscapulohumeral muscle disease

There are two major types of facioscapulohumeral muscle disease

  • Type 1 disease 
  • Type 2 disease

Type 1 of this disease is observed in 95 percent of persons who are suffering from this disease. This type of disease cannot be transferred due to mother or family history this type occurs due to the new mutation in genes.

Type 2 of this disease is observed in about 5 percent of people. This type of disease is caused due to family history. It is an autosomal dominant disease. In this type

SMCHD1 gene causes shortness in the DNA and causes some mutation in D4Z4 region which will cause muscle weakness.

Symptoms of facioscapulohumeral muscle disease

Major symptoms are

  •     Facioscapulohumeral disease majorly causes severe weakness of muscles.
  •     It attacks commonly the muscles of the face, shoulder, upper arms.
  •     It causes ulceration in the cornea of the eye which will cause difficulty in the blinking of the eyes. People will find difficulty in closing their eyes at day time and cannot completely close their eyes during sleeping at night.
  •     It can also be a weakness in the lower body. This weakness can vary from mild to acute. Commonly it causes lower leg weakness which can lead to a disease called foot drop.
  •     It can also cause weakness in muscles present in the abdomen which includes belly muscles, rib cage muscles, and back muscles. This can cause a curve in the backbone which causes difficulty in sit-stand movement.
  •     Facioscapulohumeral disease affects one side of the body more likely than the other side. The affected side is the right side in most cases. This one side is not caused by the other muscular diseases.
  •     This disease causes severe pain in joints especially in those muscles that are not aligned. This causes too much muscle pull of the muscle.
  •     This disease affects the muscles around lips and cheeks which will cause difficulty in moving lips, using a straw, or in producing whistles.
  •     This disease causes the severe weakness of muscle present around the shoulders which will block the back and forth movement of muscles.
  •     This can also cause deafness and blindness due to the weakness of ear and eye muscles and also cause abnormalities in blood vessels.

Less common symptoms

  •     This disease can lead to the abnormality in the blood vessels present at the retina which will cause vision loss and difficulty in blinking the eye. This symptom appears at a very early stage of facioscapulohumeral muscular disease.
  •     It can also cause respiratory disorders. People will find the difficulty in breathing can start from mild to severe, but this disease can only appear in very rare cases.
  •     His muscles and areas around his hips are also affected by this disease. This can cause severe weakness of these muscles, as a result, people are unable to walk and sit and at the acute stage, people have to use a wheelchair due to blockage of the movement of lower legs and hips muscles.
  •     In young children, this disease can cause deafness or loss of hearing due to the severe muscles present in the ears and around the ears. This symptom appears during the very early stage of the disease but not very commonly found in every infected person.
  • About every ten people who are suffering from this disease do not have symptoms and signs they are not aware of their disorder until they contact a doctor and perform specific tests.

Causes of facioscapulohumeral muscular disease

Facioscapulohumeral muscle disease is an inherited genetic disease. This disease can be transmitted by the mother to child during birth. This disease mainly caused by the mutation, error, or fault that occurs on a specific number of chromosomes. Changes in DNA or any error or fault that occur on DNA will be said to be a mutation

Humans have twenty-three pairs of chromosomes and Each chromosome has specific genetic information in the form of DNA codes. The mutation, error, or fault on chromosome number four causes the facioscapulohumeral muscular disease. At chromosome number four some part of DNA missing which causes the gene mutation in the form of this disease.

Some people are affected by only type 1 disease which is not inherited or transmitted by the mother but it can occur due to the mutations occurring in the gene of the person by improper functioning of the body. People who are suffering from type 2 of this disease are affected due to a family history of this disease. These persons have irregular methyl groups in the D4Z4 region, which causes muscle weakness.

Some other reasons for facioscapulohumeral muscular disease

DNA on chromosome 4

DUX4 switched off

Person without FSHD

DUX4 switched on = muscle damage

Person with FSHD

Diagnosis of facioscapulohumeral muscle disease

This disease cannot be diagnosed easily due to the following reasons:

  •     Most people confuse this disease with the other disease of skeletal muscle because this disease has common symptoms with other diseases.
  •     There are no modern techniques to diagnose type 2 facioscapulohumeral muscle disease.
  •     Most doctors have little or no knowledge about how to diagnose and treat this disease.

Doctors need the following information in order to find the exact type of disease.

  •     Symptoms and the regions of muscle weakness after that doctor can conclude about the type of disease.

The family history about this disease and the ratio of the disease transmission in a family.

  •     Doctors need complete physical information about patients like symptoms of muscle of face, weakness of muscle of arms, legs and hips, signs of curves in the spinal cord (vertebral column), and the symptoms of weakness of muscles which are present at the back of the body.
  •     Doctors check the functioning of the respiratory system. Doctor analysis about the breathing rate and find the fault in respiratory functions.
  •     The doctor analyzed the foot muscle. Check the weakness of the muscle and also find the foot drop which is caused due to the severe weakness of foot muscles.
  •     Doctors need information about the activities of the affected person. These activities include sit, stand, climb, run, walking, etc.
  •     Doctors also need information about the proper or improper functioning of the muscle relaxing and contracting present at the arm, elbow, legs, etc.

Diagnostic options

FSHD can be diagnosed by the two major types of tests

  • Initial testing
  • Genetic testing

Initial testing

This type of testing is used for the proper diagnosis of this disease. Doctors perform the following test to analyze or diagnose this disease.

  •     The first test is the blood test for creatine kinase

Creatine kinase is an enzyme that is released when the tissue of muscle gets damaged. The high presence of this enzyme indicates the presence of this disease.

  •     Results of electromyogram

Electromyogram is the second method to diagnose this disease. This device or test is used to analyze the functioning of the electrolytes present in the muscle. This test will measure the electrical function of the muscle.

  •     Study of nerve conduction velocity

This is the third test that is used to diagnose this disease. In this type of test speed of signals can be measured which is transmitted from one nerve to another.

  •   Muscle biopsy

This is another test that is used to diagnose this disease. This test is done by the removal of the specific part of the muscle tissue as a sample

  •     Retinal examination

A retinal test is used to diagnose the activity of blood vessels present at the retina, and also find the muscle weakness in the eyes.

Genetic testing

This type of test is used to diagnose type 2 disease which can only be diagnosed by the study of genes. This is a blood test. A blood sample is taken from the affected person. This blood sample is observed to confirm the error in the DNA which mostly occurs on chromosome number 4.

The disease can be confirmed by analyzing the length of the DNA. The shorter length of the DNA indicates the disease. This shortness is actually caused due to the contraction of D4Z4.

Disease severity

The disease severity can be estimated by the following factors.

*      The size of the DNA after contraction.

*      Severity of mutation on D4Z4.

*      Need a wheelchair at a young age.

Treatment of the Facioscapulohumeral muscular disease

Presently FSHD has no treatment to cure. But some therapies are available to help with these complications of muscles.

  •  The major treatment is done by the specific type of exercise. Different types of therapies are available for the treatment of this disease.
  • Different drug therapies also used to treat this disease.

List of cares need in Facioscapulohumeral humeral dystrophy (FSHD) 

  • Analysis Of hearing damage in offspring and some adults.
  • Observing breathing problems.
  • Use of orthotics devices that help in the movement like ankle-foot orthotics to help with walking.
  • Examining for retinal (eye) problems in patients whose infection passage is more acute.
  • Orthopedic analysis or surgery, these treatments are used to especially confine the shoulder edges or to treat wounds from falls.
  • It also works with physical therapists to control the pain of the joints, muscles and other soft tissues.
  • Biological and muscles-related therapy, excluding exercise which helps to sustain the motion of body muscles. In this way, they use muscles in our activities and reduce or inhibit the weakness of muscles. It also recovers the functions of the heart and lungs (Cardiorespiratory Status).

Therapies are obtainable to help with muscle indications

Shoulder edge surgery

This surgery helps the shoulder edges from pain and motion. But this surgery has low evidence available for cure.

Physical activity like Exercise

About two pieces of evidence are available about a physical activity like exercise.

  • Aerobic exercise is helpful for muscle dystrophy but about this, low evidence is existing.
  • Strength training is also available but this training does not help to improve the considerable strength of muscles. So moderate evidence is accessible about this.
  • Families can look for hospitals focused on treating and evaluating people with muscle disease.
  • Some assured clinics may be beneficial for handling care of muscle disease.

Blood flow is essential for healing

You can mend your Repetitive Strain Injury. You don’t need to be left with it until the end of time. You just need the correct treatment. You have to rest your damage and elevate the bloodstream to the harmed tissue. You need Blood Flow Stimulation Therapy Wraps to bring supplement rich, oxygenated blood to your damage. This expansion in the bloodstream attempts to effectively mend your damage.

Bloodstream is the most basic component in fast recuperation. Tragically, the damage very still has an exceptionally constrained bloodstream. While physical action animates the bloodstream, this can make your condition become more regrettable than it is now. Wraps are the answer to this issue. They’re intended to accelerate the mending procedure while you’re very still. This implies you’re getting the sound bloodstream your tissue needs to recuperate while keeping away from pre-damage simultaneously.


Physiotherapy is the first treatment which is carried out to reduce the pain it consists of stretching simple exercises to fix the issue of weakness and hardness of the tissues like muscles and nerve are cured with these simple set of physiotherapy exercises.

It also prefers or suggests to reduce the other activities like daily work sport and other such activity which are damaging or can cause any weakness and hardness of the tissues like muscles and nerve are with these simple set of physiotherapy exercises it also prefers or suggests to the other activities like work sport and other such activity which are damaging or can cause any pain to the patient after Physiotherapy exercises and complete cure of the muscles and nerve the patient can do their routine work and sport whenever possible physiotherapy is done in cases related to a sports injury or mild joint injury.

Occupational therapy shoulder joint injury make the everyday work difficult and difficult to lift something even to work because it also involves the movement of shoulder joint during walking then further treatment is done with occupational therapy this therapy let us know how to do daily work like driving washing dressing clothes are carrying out other activities, it also gives us necessary equipment and devices to make it easier to work the routine of daily during the treatment.

Heat and cold packs

The temporary relief in the pain at the hardness of the muscle can be reduced with the application of heat and cold packs it makes the circulation of blood more in that area of injury result in a decrease in the pain.


Medication involves using painkiller anti-inflammatory tablets and antibiotic drugs to decrease the pain. During medication, a very low dose of inflammatory recovering drugs are used such as Paracetamol.

This medication can be used with the consult meeting of the doctor if you have any issue such as high blood pressure or other cardiac disorder or disease of kidney this medication should not be used for a long period of time.

The doctor may advise taking corticosteroid injection it is also important to know that the use of these drugs also side effects with your kidneys and liver are other organs a person can tolerate the side effects.

They can use these drugs to decrease the pain where induction can be used more than one time and degree of the pain during the mobile off-shoulder joint doctor may suggest hydro dilation it is injected into the joint it contains salt and steroid in different cases use of hydro dilation is supported by many pieces of evidence that it decreases pain and help in movement after this treatment physiotherapy is done which also reduce the pain.


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