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Congenital Myopathies

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Congenital Myopathies

What is Congenital Myopathy (CM)?

About the disease:

Congenital myopathy is an uncommon neurological disorder which affects the muscles’ functionality since birth. This disease is associated with muscle weakness, hypotonia (a decrease in the tone of skeletal muscle), and delay in development. The disorder results from genetic mutations that affect the structure or function of skeletal muscle proteins. The severity range of symptoms varies from mild muscular weakness to respiratory and feeding problems among others. Unlike many other diseases, congenital myopathy is unprogressive, but it requires continuous management and support to ensure a better life for those affected by it.

Congenital Myopathy (CM) Symptoms and Signs:


Here are the early Signs & Symptoms of Congenital Myopathy :

  • Muscular weakness caused by muscle atrophy
  • Hypotonia, a condition also known as low muscle tone
  • Motor developmental delay e.g. sitting and standing delayed
  • Feeding or swallowing issues
  • Problems with breathing due to weakened respiratory muscles
  • Stiff joints or contracted joints
  • Unusual facial features due to weak facial muscles
  • Weak head control
  • Lack of stamina during exercise
  • Curvature of the spine, known as scoliosis.

 

Common Fears & Concerns Regarding Congenital myopathy:

  • Progressive muscle weakness:
    Most people are anxious about their child’s ability to move progressively weak rather than this condition being non-progressive most of the time.
  • Mobility challenges:
    Some common thoughts which bother parents of children affected by Congenital Myopathy are whether or not they would be able to walk, stand or carry on with daily activities independently. These fears might seem justifiable if we consider mobility issues as a result of Congenital Myopathy.
  • Respiratory failure:
    Many families fear that breathing difficulties might develop along with the need for mechanical ventilation and other interventions.
  • Problems in eating:
    Some patients’ families may have anxieties over any feeding issues involving difficulties in swallowing leading to malnutrition.
  • Long-term care:
    There is also anxiety regarding the necessity for continuous supportive measures and therapy.
  • Few treatment options:
    Other concerns which could be expressed include lack of curative treatments as well as possible complications from therapies.
  • Quality of life impacts:
    Anxiety related to social limitations, physical independence and general welfare.

 

Best Treatment on Congenital Myopathy in India at StemRx:

Congenital myopathy is a condition that can be treated in various ways. The approach includes addressing some of the contributing factors such as heavy metal poisoning, digestive system infections which may increase oxidative stress on the brain and malfunctioning of Gut-Brain axis. Managing symptoms connected to congenital myopathy requires efficient communication between gut and brain. Heavy metals are excreted from the body through detoxification programs, with this procedure also restoring the integrity of Gut-Brain axis. Butyrate-producing bacteria, which promote brain health and overall neurological well-being, could be increased while pathogenic ones eliminated via Intestinal Microbiota Transfer (IMT). Stem cell therapy and cellular therapy support muscle regeneration and retard disease progression. Additionally, non-traditional therapies like quantum energy medicine, neuropeptides and growth factors are used to synergize with neuroscience for holistic healing from this neurologic disorder.

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