Published On: Sun, Apr 1st, 2018

What is Muscular Dystrophy and Types of Muscular Dystrophy Explained

Tagged with: | | | brings you the basic introduction to Muscular Dystrophy in simple easy to understand language. Find out about , Muscular Dystrophy symptoms and Muscular Dystrophy types to get awareness of this fatal disease.

Muscular Dystrophy is a rare muscular disease that usually occurs in young boys. This genetic disorder which is also referred to as MD easily leads the chart of fatal childhood diseases giving little survival chance for the patient. Muscular Dystrophy is a group of inherited diseases in which the voluntary muscles that control our body movements progressively weaken and get eventually wasted away. This disease for certain is not contagious at all as people are born with this genetic disorder caused by incorrect or missing information in some of their genes that control their movements. Also check out Human Muscular System Facts to know about our muscular system.

Muscular Dystrophy Causes

There are more than 30 forms of Muscular Dystrophy which is caused by gene mutation or to put it in simple words – errors in certain genes belonging to either or both the parents. In most cases, the child may be having muscular dystrophy despite none of his parents showing any signs of this disease. In some other cases, muscular dystrophy may not be because of hereditary at all.

While mostly it is the arms and legs that are affected by muscular dystrophy, the muscles near the spine also have the potential of getting hit. The complications of this muscular disease are heart and other important organs getting affected and eventually leading to death.
R.D.K holdings S.A
Muscular Dystrophy may appear not just in the infant stage but also during the middle age or later ages.

Nine Most Common Muscular Dystrophy Types

Becker Muscular Dystrophy

BMD or Becker muscular dystrophy is a milder version of DMD and is caused by partially functional dystrophin.

Congenital Muscular Dystrophy

As the name suggests, congenital muscular dystrophy starts from birth and maybe a combination of both muscle weakness and joint deformities. There are various types of congenital muscular dystrophy and some of them also show severe brain malformations.

Duchenne Muscular Dystrophy

DMD or Duchenne muscular dystrophy is the most common childhood form for muscular dystrophy affecting mainly boys. The symptoms become noticeable by the time the child starts walking and gradually the child may stop walking without the help of braces usually by the age of 12. DMD is caused due to the absence of a protein gene called dystrophin. The lesser is the amount of this gene the more severe is the disorder.

Distal Muscular Dystrophy

Distal Muscular Dystrophy affects the muscles of extremities such as hands, feet and lower limbs. The cause of this dystrophy is unknown and there are 8 different types of distal muscular dystrophy some of which are known to be inherited from parents. As the disease progresses slowly and is not life threatening, the patients may not be aware of the severity of the issue until they reach their 50s in many cases.

Emery–Dreifuss Muscular Dystrophy

Emery Dreifuss Muscular Dystrophy is either present in the patient from childhood or starts during the teenage with symptoms like weakness in muscles such as distal limb muscles. It gradually progresses to involve limb-girdle muscles. Many patients may suffer from cardiac conduction which, if ignored may cause or sudden death .

Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral Muscular Dystrophy (FSHD) starts affecting the muscles of face, shoulders and upper arms and results in weakness. Its symptoms usually become visible during the teenage.Though in a majority of cases, it is inherited, there are instances where it is caused by spontaneous mutations.

Limb-girdle Muscular Dystrophy (LGMD)

Limb-girdle Muscular Dystrophy (LGMD) is somewhat similar to FSHD in symptoms. It affects both arms and legs and the disease is inherited. However, the pattern of inheritance is different. Patients suffering from LGMD can usually lead a normal life with some assistance but in extreme cases LGMD may cause death due to  cardiopulmonary complications.
Myotonic Muscular Dystrophy

Myotonic muscular dystrophy as the name suggests has patients showing signs of myotonia, a condition in which there is a delayed muscle relaxation. This disease is an autosomal dominant condition which means that it can be passed on through generations because of an abnormal gene. In the case of Myotonic muscular dystrophy, it is because of the mutation of the DMPK and ZNF9 genes. Wasting and weakness in muscles that control the lower legs, hands, neck and face start to show up at the age of 20s and 30s. Other Myotonic muscular dystrophy symptoms include cataracts, early balding, infertility. There are two types of Myotonic muscular dystrophy – type 1 known as Steinert disease or DM1 and type 2 called as DM2.

Oculopharyngeal Muscular Dystrophy

Commonly referred as OPMD, Oculopharyngeal muscular dystrophy begins to show up usually after an age of 40. It is caused by the PABPN1 gene mutation. OPMD is not particularly a life-threatening disease and although there is no specific OPMD treatment available its symptoms can be managed. OPMD symptoms include drooping of eyelids, difficulty in swallowing, weakness in the muscles that control the eye movement (extraocular muscles), gradual weakness and wasting away of the tongue and proximal limb weakness.

Muscular Dystrophy Symptoms

Depending upon the type and severity of muscular dystrophy symptoms, the symptoms may vary slightly. However, most symptoms are more or less related to muscle weakness such as.

  • Poor Balance and Inability Walk Properly
  • Drooping Eye(Eyelids)
  • Curved Spine or Scoliosis
  • Deformed Calves That May Limit Movements
  • Respiratory Difficulty
  • Joint Contractures and Muscle Spasms
  • Gower’s Sign (Inability to stand up from squatting position without using hand support)
  • Atrophy
  • Cardiomyopathy

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