Muscular Dystrophy: Types, Symptoms, and Rehabilitation

Imagine waking up every day and checking if the simple act of lifting your arms, walking, or just smiling has become difficult or not. Imagine living with physical limitations and constant uncertainty of whether tomorrow you will have deteriorated even further. This is the reality for millions of people around the world who relentlessly grapple with the challenges of muscular dystrophy.

As a group of rare genetic disorders, muscular dystrophy is a progressive condition that is characterised by muscle weakness and degeneration. Through this blog, we’ll explore the nine major types of muscular dystrophy, their distinct features, symptoms, as well as the best rehabilitation centre for muscular dystrophy in India.

What is muscular dystrophy?

As mentioned above, muscular dystrophy is a genetic condition that results in the gradual weakening and wasting of muscle tissue. The condition affects voluntary muscles, and can lead to respiratory problems, mobility challenges, and difficulty in performing simple everyday tasks.

Muscular dystrophy is caused by mutations in the genes that encode the proteins responsible for muscle function and structure. These mutations impede normal production of proteins, which eventually leads to muscle degeneration.

Causes of muscular dystrophy

The following are the causes of muscular dystrophy:

Family history
Spontaneous gene mutations
Gender (muscular dystrophy is most common in males)
Protein deficiency
Environmental factors

Types of muscular dystrophy

The severity as well as progression of muscular dystrophy can differ from person to person. While there are some types of muscular dystrophy that manifest in childhood, most do not become apparent until adulthood.

There are nine types of muscular dystrophy, each of which has its own genetic triggers or causes, and characteristics. Let’s discuss them below.

Duchenne Muscular Dystrophy (DMD)

This type of muscular dystrophy is caused by mutations in the DMD gene which completely stops the secretion of dystrophin, an important muscle protein.

The symptoms of Duchenne Muscular Dystrophy appear in early childhood, typically between the ages of 2 and 6 years. The symptoms include:

Enlarged calf muscles
Joint stiffness (contractures)
Spinal curvature (scoliosis)
Frequent falls
Difficulty in standing up (especially after sitting for long periods)
Progressive muscle weakness (starting in the pelvis and legs)

Supportive treatments for Duchenne Muscular Dystrophy involve steroids that can slow down muscle degeneration, mobility aids, as well as physical therapy. In recent years, exon-skipping drugs have also shown incredible promise in managing this condition.

Becker Muscular Dystrophy (BMD)

This type of muscular dystrophy is caused by mutations in the DMD gene, but results in reduced dystrophin production.

The symptoms of Becker Muscular Dystrophy typically appear in childhood or adolescence, and include:

Muscle weakness (milder than DMD)
Slower progression
Some cases have also reported cardiac distress

Management strategies include supportive care and steroids.

Myotonic Dystrophy Type 1 (DM1)

This type of muscular dystrophy is caused by the expansion of a specific genetic sequence (CTG repeats) in the DMPK gene. Its symptoms can manifest at any age and range from mild to severe. The symptoms of DM1 include:

Endocrine issues
Gastrointestinal issues
Cardiac issues (some cases)
Cognitive impairment (some cases)
Muscle weakness and wasting
Myotonia (prolonged muscle contractions)

Physical therapy, medications, and cardiac monitoring are the generally prescribed management strategies for DM1.

Myotonic Dystrophy Type 2 (DM2)

This type of muscular dystrophy is caused by the expansion of CCTG repeats in the CNBP gene. Typically occurring in childhood, the symptoms of DM2 include:

Myotonia
Muscle weakness and wasting
Cardiac and respiratory issues (some cases)

Symptom-specific approaches such as physical therapy and medications (for myotonia) are generally prescribed for DM2.

Limb-Girdle Muscular Dystrophy (LGMD)

This type of muscular dystrophy consists of multiple subtypes, each linked to a different gene(s).

The onset of LGMD varies widely – some subtypes manifest in childhood, while others appear prominently in adulthood. The symptoms of LGMD include:

Cardiac and respiratory issues (some subtypes)
Inability to climb stairs
Difficulty in rising from a seated position
Progressive muscle weakness in hip girdle and shoulders

Physical therapy and supportive care are the primary management strategies of LGMD.

Facioscapulohumeral Muscular Dystrophy (FSHD)

Primarily linked to deletions in the DUX4 gene, this type of muscular dystrophy typically appears in adolescence or early adulthood. The symptoms of FSHD include:

Difficulty raising arms
Difficulty smiling
Muscle weakness (face, shoulders, upper arms muscles, lower limbs)

Physical therapy can help to manage the symptoms of FSHD.

Congenital Muscular Dystrophy (CMD)

CMD is a group of early-onset muscular dystrophies, each with its own (specific) gene mutations. The symptoms manifest at birth or in early childhood, and include:

Delayed motor development
Cognitive impairment (some cases)
Respiratory challenges (some cases)
Muscle weakness
Hypotonia (low muscle tone)

Physical therapy, mobility aids, and supportive care help in managing symptoms and associated complications of congenital muscular dystrophy.

Emery-Dreifuss Muscular Dystrophy (EDMD)

This type of muscular dystrophy is linked to mutations in FHL1, LMNA, or EMD genes. It typically manifests in childhood or adolescence.

The symptoms of EDMD include:

Muscle weakness in upper arms and lower legs
Cardiac issues with conduction abnormalities
Joint contractures, typically in neck, elbows, and ankles

Physical therapy, cardiac monitoring, and orthopaedic interventions are often prescribed for managing Emery-Dreifuss Muscular Dystrophy.

Oculopharyngeal Muscular Dystrophy (OPMD)

This type of muscular dystrophy is a result of mutations in the PABPN1 gene. It typically manifests in adulthood, with an onset after 40 years of age.

The symptoms of OPMD include:

Muscle weakness in limbs
Dysphagia (difficulty swallowing) resulting from weak throat muscles
Ptosis (drooping eyelids) resulting from weak eyelids

Speech therapy to address dysphagia, as well as supportive care are the primary management strategies prescribed for OPMD.

Stem cell therapy for muscular dystrophy

Stem cell therapy has shown incredible promise in managing the symptoms and slowing down the progression of muscular dystrophy. Through stem cells (derived from bone marrow), progressive muscle proteins may be transmitted to the patient’s body.

Stem cell therapy for muscular dystrophy supports tissue remodeling, prevention of cell death, and reduction of inflammation.

As India’s first ISO-Certified stem cell research centre, Plexus offers the singular advantage of providing the very best stem cell therapy to our patients. With over 35 years of clinical experience, our team of stem cell specialists is spearheaded by Dr Na’eem Sadiq, world-renowned neurologist and stem cell specialist.

We also offer physical therapy, occupational therapy, speech therapy, orthopaedic interventions, nutritional support, and respiratory support for patients with muscular dystrophy.

You can read about the stages of muscular dystrophy here.

FAQs

What is the most common type of muscular dystrophy?

Duchenne muscular dystrophy is the most common type of muscular dystrophy.

What is the best treatment for muscular dystrophy?

While steroids and medication have been known to provide relief to patients with muscular dystrophy, stem cell therapy has been able to increase their lifespan, improve muscle tone, reduce inflammation, and support nerve regeneration. Stem cell therapy restores quality of life.