About NMD

Neuromuscular disorders or NMD affect the nerves that control the voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down. As a result, the muscles weaken and waste away.  Examples of neuromuscular disorders include

  • Amyotrophic lateral sclerosis
  • Multiple sclerosis
  • Muscular dystrophy
  • Myasthenia gravis
  • Spinal muscular atrophy

(Source: Medline Plus)

Muscular Dystrophy

Muscular Dystrophy (MD) refers to a group of more than 30 inherited diseases that cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood, while others may not appear until middle age or later. The different muscular dystrophies vary in who they affect and the symptoms. All forms of MD grow worse as the person’s muscles get weaker. Most people with MD eventually lose the ability to walk.

To date, there is no cure for muscular dystrophy although there is research being done. General treatments include physical and speech therapy, orthopedic devices, surgery and medications.

(Source: NIH: National Institute of Neurological Disorders and Stroke)

Types of MD

There are many different types of muscular dystrophies. A fe are below:

  1. Duchenne muscular dystrophy (X-linked recessive)
  2. Becker muscular dystrophy (X-linked recessive)
  3. Myotonic dystrophy (autosomal dominant-expansion of unstable CTG trinucleotide DNA sequence) and congenital myotonic dystrophy (maternally transmitted)
  4. Congenital muscular dystrophy (autosomal recessive)
  5. Limb girdle muscular dystrophy (autosomal dominant or recessive)
  6. Facioscapulohumeral dystrophy (autosomal dominant)
  7. Emery-Dreifuss muscular dystrophy (X-linked recessive)

(Source: University of Hawaii John A. Burns School of Medicine)

What Type of MD Do the Zubair Children Have?

This is a question that we have not been able to find a definite answer too. While the doctors in Pakistan are convinced that the children have Duchenne muscular dystrophy, the Singapore National Health Sciences Hospital diagnosed them as suffering from “some problem similar to Limb girdle muscular dystrophy.” We need molecular genetics testing done on the children to get an accurate diagnosis so that a course of treatment and management can be planned accordingly.

What is Limb Girdle Muscular Dystrophy (LMGD)?

Limb-girdle muscular dystrophy (LGMD) is a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. LGMD is caused by a mutation in any of at least 15 different genes that affect proteins necessary for muscle function. Some forms of the disorder progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years.

(Source: Muscular Dystrophy Association)

What is the Status of Research on MD?

Muscular Dystrophy Association-supported scientists are pursuing several exciting strategies in muscular dystrophy research that have implications for MD, specifically LGMD. These strategies include gene therapy, exon skipping, stop codon-read through and myostatin blocking.

In the recessive forms of LGMD, it may be possible to insert a new gene to compensate for one that isn’t working properly. This type of intervention — gene therapy — has shown promise in a pilot trial in people with the alpha-sarcoglycan-deficient form of LGMD. In Duchenne muscular dystrophy, clinical trials are under way of compounds that coax cells to snip out these error-containing DNA regions (exon skipping); this research also may have relevance for LGMD treatment.

Still another strategy is to use stem cells to help ailing muscles regain strength. Stem cells are early-stage, flexible cells that can give rise to mature muscle fibers. They’re found in muscle tissue and other places in the body, and scientists are working to determine which cells are the safest and most effective to test in people with LGMD and other diseases.

Latest updates on MD Research

(Source: Muscular Dystrophy Association)

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