Types of ​Muscular Dystrophy and Neuromuscular Diseases: All You Need to Know!

Muscular Dystrophy (MD) is a group of inherited diseases that weakens or damages voluntary muscles. Lack of dystrophin, a protein essential for the normal functioning of muscles is the major cause of the condition. Individuals with the condition may experience difficulty in walking, swallowing and muscle coordination.

The condition may occur at any age, from childhood ​​to middle age and later. Young boys are more prone to developing muscular dystrophy as compared to girls. There is no cure for the condition. However, early diagnosis and proper treatment may help to relieve the symptoms.

Types of Muscular Dystrophy

There are over 30 different types of muscular dystrophy, each one with different symptoms and severity. The diagnosis is done based on nine major categories; they are:

  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Congenital Muscular Dystrophy
  • Myotonic Dystrophy
  • Facioscapulohumeral Muscular Dystrophy (FSHD)
  • Limb-girdle Muscular Dystrophy
  • Oculopharyngeal Muscular Dystrophy (OPMD)
  • Distal Muscular Dystrophy
  • Emery-Dreifuss Muscular Dystrophy

Duchenne Muscular Dystrophy

Age at onset: 2 to 6 years

This is the most common type of muscular dystrophy that affects mostly boys between two and six years of age. The condition is less common in girls. Even though the progression of the disease may vary from individual to individual, in most cases, those with the condition may need a wheelchair before their teenage years.

Symptoms of muscular dystrophy include:

  • Difficulty in walking
  • Difficulty in standing
  • Difficulty in swallowing
  • Difficulty in breathing
  • Poor posture
  • Loss of reflexes
  • Weakness in the upper arms or thighs
    · Bone thinning

The average life expectancy of individuals with the condition is the 20s.

Becker Muscular Dystrophy

Age at onset: 2 to 16 years

Similar to Duchenne muscular dystrophy, Becker muscular dystrophy is more common in boys. The condition mostly affects your arms and legs. Even though the symptoms may appear between the age 2 and 16, in some cases, they may appear at 25 years of age. The condition is less severe as compared to Duchenne muscular dystrophy and most individuals with the condition may not require a wheelchair until 30 years of age or older.

Symptoms of Duchenne muscular dystrophy include:

  • Muscle cramps
  • Frequent falls
  • Difficulty getting up from the floor

The average life expectancy of individuals with the condition is middle age or later.

Congenital Muscular Dystrophy

Age at onset: Between birth and 2 years

Congenital muscular dystrophy is mostly diagnosed soon after birth or before the child completes two years of age. The condition is mostly noticed by parents if the child’s motor functions and muscle control are not developing properly.

Symptoms of Congenital muscular dystrophy include:

  • Difficulty in swallowing
  • Eyesight problems
  • Difficulty in sitting without support
  • Difficulty in standing without support
  • Intellectual impairment
  • Difficulty in speaking
  • Respiratory problems
  • Lack of motor control

The average life expectancy of individuals with the condition may vary depending on the severity of the condition. In some cases, individuals with the condition may die in infancy while in others they may live until adulthood.

Myotonic Dystrophy

Age at onset: 20 to 40 years

Also referred to as Steinert’s disease, Myotonic dystrophy is a common type of muscular dystrophy affecting both men and women. The condition mostly affects your facial muscles. Other body parts that may get affected by Myotonic dystrophy include the heart, thyroid, gastrointestinal tract, adrenal glands and central nervous system. The progression of the condition is slow and the severity of the symptoms may vary in each individual.

In most cases, the symptoms may appear initially in your face and neck. Common symptoms of Myotonic dystrophy include:

  • Difficulty in swallowing
  • Poor vision
  • Droopy eyelids
  • Difficulty in lifting neck
  • Excess sweating

Myotonic dystrophy may also lead to irregular periods and infertility in women and impotence in men.

Facioscapulohumeral Muscular Dystrophy (FSHD)

Age at onset: Teenage to early adulthood

Also referred to as Landouzy-Dejerine disease, Facioscapulohumeral muscular dystrophy (FSHD) affects the face, shoulders and hip. The progression of the condition is slow with rapid deterioration. The condition appears in both male and female and the severity may vary from mild to completely disabling.

Symptoms of Facioscapulohumeral muscular dystrophy (FSHD) include:

  • Difficulty in swallowing
  • Difficulty in chewing
  • Change in facial appearance
  • Weakness in the facial muscle
  • Hearing problems (rare)
    · Respiratory problems (rare)

In most cases, individuals with the condition live a normal life span.

Limb-girdle Muscular Dystrophy

Age at onset: Childhood or teenage years

Limb-girdle muscular dystrophy is a condition where the weakening of muscles usually affects shoulders, hips, legs and neck. The condition affects both men and women. In most cases, individuals with the condition become disabled in their 20s.

Symptoms of Limb-girdle muscular dystrophy include:

  • Difficulty in walking
  • Difficulty in climbing stairs
  • Difficulty in getting up from a sitting position

Individuals with the condition may have a normal life expectancy. In some cases, cardiopulmonary complications may lead to death.

Oculopharyngeal Muscular Dystrophy (OPMD)

Age at onset: 40 to 70 years

Oculopharyngeal refers to eyes and throat. The condition is common in both men and women and mostly affects your facial, neck and shoulder muscles. As the condition progresses, individuals with the condition may also experience weakness in pelvic and shoulder muscles.

Symptoms of Oculopharyngeal muscular dystrophy include:

  • Difficulty in swallowing
  • Difficulty in walking
  • Drooping eyelids
  • Changes in the voice
  • Vision problems
  • Cardiovascular problems
  • Choking

The progression of the condition is slow and individuals with the average life span is 50 to 60 years.

Distal Muscular Dystrophy

Age at onset: 40 to 60 years

Also referred to as Distal Myopathy, Distal muscular dystrophy is a rare condition that affects your heart muscles and respiratory system. The progression of the condition is slow, eventually leading to total incapacity.

Symptoms of Distal muscular dystrophy:

  • Difficulty in walking
  • Loss of motor skills
  • Weakness of shoulder/ upper arm/ shin muscles

The progression of the condition is slow and affects a few muscles as compared to other forms of the condition.

Emery-Dreifuss Muscular Dystrophy

Age at onset: Childhood to teenage

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy and is more common in boys than girls. The condition causes muscle weakness and muscle shortening. The symptoms of the condition usually occur in childhood.

Symptoms of Emery-Dreifuss muscular dystrophy include:

  • Difficulty in breathing
  • Heart problems
  • Weakness of shoulder, upper arms and shin muscles

The condition progresses slowly and causes less severe symptoms than other types of muscular dystrophy. In most cases, heart or lung failure is the major cause of death in individuals with the condition.

Other Neuromuscular Diseases

Apart from muscular dystrophies, there are three other major diseases that affect the neuromuscular system. They are:

Motor Neurone Diseases

It is a rare condition that majorly affects the brain and nerves. Motor neurons are a type of nerve cell whose main function is to transmit messages around your body to make movements. Upper motor neurons and lower motor neurons are the two main types of motor neurons. When motor neurons die it becomes difficult for the muscles to get electrical messages from your brain, resulting in wasting of muscles. This condition causes loss of control over movements, thus making it difficult to walk, talk, breathe and swallow.

Motor neuron disorders are further classified into four main types – Amyotrophic lateral sclerosis (ALS), Progressive bulbar palsy (PBP), Progressive muscular atrophy (PMA) and Primary lateral sclerosis (PLS). Each disease affects different nerve cells and has different symptoms.

Neuropathy

Neuropathy, also referred to as peripheral neuropathy, is damage to one or more nerves resulting in numbness, muscle weakness and pain. The condition most commonly affects hands and feet and may affect the other body parts too. Some of the diseases of the peripheral nerve include Charcot-Marie-Tooth disease, diabetes, and chronic inflammatory demyelinating neuropathy (CIDP).

Neuromuscular Junction Disorders

In Neuromuscular junction disorders, the signal to contract a muscle is blocked as it attempts to close the distance between the nerve and the muscle. Myasthenia gravis is the most common of these diseases and is an inflammatory disease in which the immune system develops antibodies that bind to the neuromuscular junction and block nerve impulse transmission to the muscle.

Dr. Rajesh Verma, Director & Senior Consultant-Orthopaedics, Spine Surgery, Dharamshila Narayana Superspeciality Hospital, Delhi.

Narayana Health

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