How International Patients Find Relief from Myopathies in India

Myopathies treatment

Myopathies are a general category of muscle disorder that may either be inherited (genetic) or acquired (inflammatory, metabolic, toxic, or endocrine-related). There are various types and severity of symptoms that are treated depending on their underlying cause. Here’s a structured overview:

Determine the type of underlying

• Inflammatory myopathies (e.g., polymyositi, dermatomyositis, inclusion body myositis)
• Metabolism Myopathies (e.g., mitochondrial, glycogen storage diseases)
• Myopathies associated with endocrine (thyroid, adrenal, parathyroid imbalance)
• Myopathies that were caused by drug/toxin (statins, alcohol, steroids)
• Genetic Muscular Dystrophy.

Goals of treatment

• Cut inflammation (in case mediated by the immune system)
• Slow disease progression
• Enhance muscle strength and functioning.
• Treat complications (swallowing problem, respiratory weakness, heart involvement)

Treatment Options:

Inflammatory Myopathies

• Corticosteroids (e.g., Prednisone) - initially used to suppress muscle inflammation.
• Immunosuppressive agents- Methotrexate, Azathioprine, Mycophenolate mofetil.
• Biologics / advanced therapies -Rituximab, IVIG (intravenous immunoglobulin), Cyclophosphamide.
• Physical therapy -assists in maintaining strength and avoiding contractures.

Metabolic Myopathies

• Enzyme replacement treatment (e.g., Pompes disease).
• Nutritional changes- 1. high carbohydrate diets pre-exercise, 2. no long fasting.
• Supplements Coenzyme Q10, carnitine (in particular deficiencies).

Endocrine Myopathies

Correct underlying hormone imbalance:

• Hypothyroidism → Replacement of thyroid hormone.
• Hyperthyroidism → Antithyroid medications, radioiodine or surgery.
• Cushing syndrome Surgery or medication to normalize cortisol.

Myopathy associated with Drugs or Toxins

• Abolish or change the offensive drug (e.g., change statins).
• Recovery therapy.

Genetic Muscular Dystrophies / Inherited Myopathies

There is no cure as yet; treatment is concerned with:

• Corticosteroids (in Duchenne muscular dystrophy) in order to delay progression.
• Gene therapy & exon skipping drugs (under development in Duchenne and others).
• Nurturing: physiotherapy, aids.

Supportive Measures & Lifestyle Measures

• Physiotherapy & occupational therapy - remain mobile and independent.
• Speech/swallow therapy- when the swallowing muscles are weak.
• Respiratory support - non-invasive ventilation in the advanced cases.
• Nutritional support -dietary needs to avoid malnutrition and muscle wasting.
• Frequent check-up- heart, lungs, muscle activity.

Myopathies symptoms

Myopathies are diseases that affect the muscles primarily, and cause weakness and other systemic complications. The symptoms differ depending on the nature of the myopathy (inherited (genetic) or acquired (inflammatory, metabolic, endocrine or drug-induced)) but share some common features.

General Symptoms of the Myopathies

• Weakness of the muscle (that is the most obvious symptom)
• Typically it is proximal muscles first (hips, thighs, shoulders, upper arms).
• The inability to climb up or down stairs, to stand up or get out of a chair, to pick something up, or to hairdress.
• The muscle pains or cramps (myalgia), in particular, post-exercise.
• Weakness and loss of exercise capacity.
• Atrophy (muscle wasting) of long-term or genetic myopathies.
• Stiffness or contractures (tightening and lack of flexibility of the muscles).
• Swallowing (dysphagia) may be difficult in case of affected throat muscles.
• Difficulty breathing when the respiratory muscles are involved.
• Abnormal stepping (waddling, tiptoe walking).

Inherited myopathies treatment

Muscular dystrophies, congenital myopathies, mitochondrial myopathies, metabolic myopathies, and channelopathies, all of which are inherited myopathies (also known as genetic myopathies).

Most inherited myopathies are not fully curable since they have genetic defects and therefore treatment aims at slowing down, managing complications and enhancing quality of life.

General Management of Inherited Myopathies

• Symptom management > be strong, mobile, functional.
• Prevention of complications→ defend heart, lungs, bones, and joints.
• Supportive care → nutrition, respiratory support, physical rehabilitation.
• Specific treatments (when it is only possible, and may sometimes be experimental).

List of Treatment Categories:

Muscular Dystrophies (e.g., Duchenne, Becker, Limb-Girdle)

• Corticosteroids (Prednisone, Deflazacort) → retard muscle deterioration.

Gene-based therapies (emerging):

• Exon skipping medications (eteplirsen, golodirsen against Duchenne).
• Trials of gene therapy based on the viral vectors delivering the dystrophin gene.
• Cardiac treatment -ACE-inhibitors, beta-blockers (cardiomyopathy).
• Orthopedic treatment: braces, prevention of contractures, surgery of scoliosis.

Congenital Myopathies (e.g., nemaline, centronuclear, myotubular)

• No specific cure.
• Nurturing care: physiotherapy, scoliosis/contracture orthopedic surgery, respiratory support (non-invasive ventilation).
• Gastrostomy or feeding therapy in case of impaired swallowing.

Mitochondrial Myopathies

• No definitive cure.

Supportive therapies:

• Coenzyme Q10, riboflavin, L-carnitine and other supplements (in some cases, enhance energy metabolism).
• Avoid drugs that are mitochondrial-toxic (valproic acid, certain antibiotics).
• Under supervision, aerobic exercise can perhaps enhance endurance.

Metabolic Myopathies (glycogen storage disorders, fatty acid oxidation disorders)

Dietary modifications:

• Pre-exercise high carbohydrate meals.
• Eat and drink Often, do not fast long.
• Enzyme replacement therapy (ERT) Так: Pompe disease (Alglucosidase alfa).
• Some conditions, including supplements (riboflavin, carnitine).

Channelopathies (e.g. periodic paralysis, myotonia)

• Acetazolamide (in periodic paralysis).
• Mexiletine (non-dystrophic myotonia).
• Avoid known precipitants (e.g. potassium-rich foods in hyperkalemic periodic paralysis).

Metabolic myopathies therapy

Metabolic myopathies are a cluster of hereditary muscle disorders that occur due to energy metabolism defects (an inability to breakdown glycogen, an inability to oxidize fatty acids, or a failure to produce energy in a mitochondrion). Since underlying enzyme defects are genetic, a full cure is often not possible - but treatment is adapted to the metabolic defect responsible to minimize symptoms and crisis.

General Goals of Therapy

• Avoid muscle breakdown (rhabdomyolysis).
• Lessen exercise intolerance, cramps and fatigue.
• Have sufficient power to muscles.
• Prevent metabolic crisis (fasting, illness or vigorous exercise).

Therapy by Subtype:

Glycogen Storage Diseases (GSD)

• (e.g.,McArdle disease, Pompe disease, Tarui disease)
• Modification of exercises → do not use strenuous and short-burst exercises; use low intensity aerobic exercises.
• Carbohydrate diets prior to exercise to supply glucose.
• Supplements: creatine, vitamin B 6, occasionally ribose (limited evidence).

Enzyme Replacement Therapy (ERT):

• In the case of Pompes disease Alglucosidase alfa (life changing therapy).

Fatty Acid Oxidation Disorders

• (e.g. CPT II deficiency, VLCAD deficiency)
• Do not fast (eat small frequent meals).
• Low fat, high-carb diet.
• Medium-chain triglycerides (MCT oil) = avoids malfunctioning long-chain fatty acid metabolism.
• Supplementation with carnitine (in primary carnitine deficiency, but not in long-chain fatty acid oxidation disorders where carnitine supplementation may exacerbate the symptoms).

Mitochondrial Myopathies

• Physical therapy (aerobic exercise has the power to enhance the efficiency of mitochondria).

Supplements / Mitochondrial cocktails (benefit varies):

• Coenzyme Q10 (ubiquinol or ubiquinone)
• Riboflavin (Vitamin B2)
• L-Carnitine
• Alpha-lipoic acid
• Arginine (in case of stroke-like episode related to MELAS)
• Do not use mitochondrial-toxic drugs (valproic acid, aminoglycosides, certain anaesthetics).

Inflammatory myopathies treatment

Autoimmune muscle diseases are inflammatory myopathies which include polymyositis (PM), dermatomyositis (DM), necrotizing autoimmune myopathy (NAM), and inclusion body myositis (IBM).

The treatment is primarily aimed at the immune suppression, preservation of muscle functioning and management of complications.

General Treatment Goals

• Lessen muscular inflammation.
• Enhance functional and strength.
• Avoid complications (respiratory, swallowing, cardiac involvement).
• Disease prevention in the long run with minimum side effects.

First-Line Therapy:

Corticosteroids (Prednisone/Prednisolone)

• Primary mode of treatment.
• Induction is given in high dose followed by gradual reduction over months.
• Frequently used in combination with other immunosuppressants as a means of steroid sparing.

Immunosuppressive/ Immunomodulatory Therapy

• Methotrexate
• Azathioprine
• Mycophenolate mofetil
• Cyclophosphamide (when severe, e.g. lung involvement).
• Calcineurin (Cyclosporine, Tacrolimus) inhibitors.

High / Biologic Therapies

• Intravenous Immunoglobulin (IVIG) -effective in dermatomyositis and in a few refractory cases.
• Rituximab - helpful in resistant PM, DM, and NAM.
• Other biologics (phase III): Tocilizumab, Abatacept.

Inclusion Body Myositis (IBM)

• Frequently immune to conventional immunosuppressive treatment.
• Give attention to rehabilitation, physiotherapy, assistive devices.
• There are some who have been helpful with IVIG (primarily with swallowing difficulties).
• Disease-modifying drugs are in clinical trial.

Myopathies specialist doctors

• Dr. Sumeet Agrawal

• Dr. Rajiva Gupta

Myopathies treatment in India with GetWellGo

GetWellGo is regarded as a leading supplier of healthcare services. We help our foreign clients choose the best treatment locations that suit their needs both financially and medically.

We offer:

• Complete transparency
• Fair costs.
• 24 hour availability.
• Medical E-visas
• Online consultation from recognized Indian experts.
• Assistance in selecting India's top hospitals for Myopathies treatment.
• Expert doctor with a strong track record of success
• Assistance during and after the course of treatment.
• Language Support
• Travel and Accommodation Services
• Case manager assigned to every patient to provide seamless support in and out of the hospital like appointment booking
• Local SIM Cards
• Currency Exchange
• Arranging Patient’s local food