What is Muscular Dystrophy: Causes, Symptom, and Treatment

Muscular dystrophy is a condition where multiple genetic diseases combine, causing severe muscle loss and weakness in an individual’s body. Although multiple therapies are available to curb the severity of muscle dystrophy, no definite treatment is well-proven to cure the disease permanently. Therefore, it becomes vital to recognise the symptoms of the condition to ensure better management.

Muscular dystrophy represents a group of disorders that gradually causes muscle loss and degeneration. It can affect various muscle groups depending on their type. Medical researchers have established the existence of more than 30 types of muscular dystrophy that can permanently inhibit muscle coordination.

Based on the prevalence, we have listed eight types of muscular dystrophy that are commonly found:

• Duchenne muscular dystrophy: Also referred to as DMD, this hereditary disease primarily affects younger boys between 3 and 5. Patients find it difficult to climb stairs and even walk short distances. Sometimes there may be associated cardiovascular problems as well.
• Becker muscular dystrophy: The second-most common type of muscular dystrophy has symptoms similar to DMD, but their degree of severity is milder. Abnormalities in muscle development and loss of flexibility are seen at an older age, between 12 to 25 years of age. 
• Limb-girdle muscular dystrophy: Muscle tissues in the limbs get damaged. The affected portions are the pelvic area, thighs, upper arms and shoulders. Symptoms become visible when a person is approaching their 20s.
  
• Congenital muscular dystrophy: Deformations are sighted in a newborn. As the baby grows, muscle breakdown gradually diminishes the life span to 10-30 years. 
  
• Myotonic muscular dystrophy: People in their 20s may develop this illness where they cannot relax contracted muscles while doing any activity.
  
• Oculopharyngeal muscular dystrophy: Those diagnosed with this medical condition experience difficulty controlling their neck, shoulder and facial muscles. At a later stage, many of them face problems while swallowing food. Teens and a population in their mid-40s can develop this health condition.
  
• Emery-Dreifuss muscular dystrophy: Those who develop this category of muscle dystrophy also suffer from several heart issues. Muscle biopsy can detect the associated anomalies at an early age of 10, mainly among boys.
• Distal muscular dystrophy: Sufferers report pain in their legs and lower arms. It is a rare health condition that initiates muscle stiffness in people between 40 and 60.
  

As many as eight muscular dystrophy types occur commonly worldwide. Each has its own set of symptoms.

1. Symptoms of Duchenne Muscular Dystrophy

People who suffer from this disorder usually get used to a lifestyle in their teenage years where they must use a wheelchair for moving. The most common symptoms are:

• Difficulty in walking, standing up and maintaining a normal posture
• Loss of reflexes
• Bone thinning
• Learning hindrance
• Problems associated with swallowing and breathing
• Restricted functioning of the lungs and the heart

Due to recent advances in neuroscience, patients diagnosed with DMD can live up to their late 30s with proper respiratory and cardiac healthcare.

2. Symptoms of Becker Muscular Dystrophy

More common among male children at the time of birth, the symptoms progressively appear when the person ages between 11 and 25. The symptoms are almost similar to Duchenne muscular dystrophy, except their effects are less detrimental. 

Some early-stage symptoms of BMD or Becker muscular dystrophy include:

• Frequent muscle cramps
• Trouble standing up from a sitting position
• Frequent falls
• Walking on toes

The life expectancy of patients with BMD can be estimated well into their middle ages, given they receive optimal medical support.

3. Symptoms of Limb-Girdle Muscular Dystrophy

Commonly referred to as LGMD, it results in quick loss of muscular mass, particularly from the hip and shoulders. 

Some frequent signs of this disease include:

• Difficulty in carrying heavy items
• Problems faced while getting up out of a seat
• Problems experienced while climbing stairs

4. Symptoms of Congenital Muscular Dystrophy

The following symptoms are related to the insufficient development of motor functions in a child below 2 years of age:

• Problems related to the child’s vision and speech
• Poor motor control
• Inability to sit and stand on their own
• Respiratory problems
• Scoliosis (poor posture)
• Foot deformities

Depending on the number of active symptoms and their severity, the lifespan of people developing congenital muscular dystrophy varies significantly.

5. Symptoms of Myotonic Muscular Dystrophy

Those who develop myotonic muscular dystrophy cannot relax their muscles after contraction. It is a rare disorder not experienced by patients who develop other forms of muscular dystrophy. 

Internal muscles that may get affected by myotonic dystrophy include:

• Adrenal glands
• Thyroid lobes
• Components of the central nervous system 
• Gastrointestinal tract
• Eyes
• Heart

Early symptoms are often observed in the affected individual’s neck and facial muscles. These include:

• Drooping facial expression
• Difficulty in moving the neck due to muscle weakness
• Poor vision (sometimes may even develop cataracts)
• Problems faced while swallowing
• Increasing sweat over time
• Abrupt weight loss

6. Symptoms of Oculopharyngeal Muscular Dystrophy

The primary muscles affected by OPMD are those present in our neck, shoulders and face. Major symptoms include:

• Voice changes
• Heart problems
• Difficulty in moving arms and walking
• Trouble swallowing

7. Symptoms of Emery-Dreifuss Muscular Dystrophy

Complications appear in childhood, and just like other types of muscular dystrophy, EDMD is common among male children at birth. 

The signs are as follows:

• Breathing and heart-related issues
• Muscle weakness in lower leg muscles (distal muscles)
• Shortening of muscle fibres in ankles, knees, neck, spine and elbows

8. Symptoms of Distal Muscular Dystrophy

Distal muscular dystrophy, a collection of 6 different diseases, affects people aged between 40 and 60. People diagnosed with distal myopathy experience the following symptoms:

• Difficulty in walking
• Loss of motor skills
• Muscle weakness in forearms, calves and feet

Muscular dystrophy causes are given below:

• In most cases, if either of the parents has faulty genes, the child may suffer from a condition with a lack of dystrophin. It is a critical protein responsible for muscle tissue generation, and its deficiency is the root biological cause of muscular dystrophy.
• At times, muscular dystrophy takes place as a result of spontaneous genetic mutations.

Muscular dystrophy is a genetic disorder. As a result of this event, dystrophin production gets hampered and thus, muscle development stops. Therefore, most of the risk factors for this condition are genetic.

Doctors cite three common inheritance patterns in patients who suffer from muscular dystrophy:

• Autosomic dominant: In this case, parents having mild clinical manifestations of muscular dystrophy can pass on their faulty genes to the newborn. Some autosomic dominant dystrophies include myotonic, oculopharyngeal and facioscapulohumeral dystrophies. Both males and females are prone to this disorder.
• Autosomic recessive: The faulty gene gets transferred from parents who do not suffer from conventional muscular dystrophy symptoms. Infants in these cases have a 25% probability of suffering from dystrophy symptoms. Type 2 limb-girdle muscular dystrophy is an example of this category.
• X-linked recessive: Faulty X chromosome, when passed from the birthing parent, can cause X-linked recessive muscular dystrophy, although both parents do not have any sound symptoms throughout their lifetime.

Medical practitioners follow a set procedure to identify symptoms related to dystrophy. First, they suggest a general physical examination and ask specific questions to the family regarding signs of concern and family medical history. 

After these procedures, the doctor prescribes the following medical tests:

• Blood tests: Two-thirds of boys developing symptoms of DMD are deficient in dystrophin protein in their bloodstream. Hence, general blood tests are ideal for revealing whether genetic mutation caused this complication.
• Muscle biopsy: Muscle tissue is thoroughly examined under a microscope in this test to determine if a child is experiencing dystrophy without expression of any common mutation.
• Electrocardiogram (ECG): This test is prescribed to determine whether muscles on the heart’s wall are getting damaged with time.
• Electromyogram: It is a necessary medical test that confirms the reasons behind muscle weakness experienced by an individual. Such weaknesses may result from nerve damage as well as from the destruction of muscles, and the latter indicates muscular dystrophy.

Doctors will recommend a course of action based on the type of muscular dystrophy. Although there is no permanent cure, by applying a combination of treatment techniques, medical teams can significantly reduce the suffering of affected individuals. 

Some common treatments include:

• Physical therapy: Physicians guide the patients in performing specific stretches and exercises to keep the muscles active and flexible.
• Speech therapy: More convenient talking techniques are taught to adapt to drooping facial muscles.
• Occupational therapy: Therapists guide children on how they can efficiently use indispensable items to survive in the real world. Meanwhile, they learn how to optimise their limited movement capabilities.
• Respiratory therapy: It may be necessary if the symptoms related to breathing problems progressively increase, and eventually, the patient may require breathing machines.

Apart from the therapies described above, the doctors prescribe several medicinal recommendations to curb the disorder's effects along with Specific injections to boost dystrophin production.

Additionally, blood pressure medicines may be necessary if the affected individual is suffering from heart problems. Doctors can also add a daily dose of creatine supplements to stabilise muscle strength over time. 

Surgery is also seen as a viable solution by doctors in cases the patient suffers from cardiac issues or has trouble swallowing.

As there is no cure for this condition, a concerned individual must try adopting a few lifestyle habits to manage the disease in the long run. These consist of the following:

• Selecting the best healthcare professionals to attend to the symptoms
• Comparing the quality of clinical trials as per personal experience
• Practising healthy habits that promote heart health and improve the effectiveness of the respiratory tract
• Clarifying doubts related to sexual health
• Preparing mentally for the worst-case scenario

One must consult a specialist if or when the symptoms worsen. It is thus essential to know the possible signs and symptoms in order to identify them in case of a severe condition. For instance falling more often, finding it difficult to stand, along with breathing trouble and heart ailments, they should immediately consult a doctor.

Despite a permanent cure, people with muscular dystrophy continue to live a healthy life until their middle ages as therapies slow down the symptoms effectively. In addition, recent medical advancements worldwide may reverse the effects of muscular dystrophy soon as researchers are trying to find ways of restricting genetic mutations. Hence, families need to know the symptoms well to tackle this disease early on and ensure their child's good quality of life.