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MYOTONIC MUSCULAR DYSTROPY

Introduction:

→ Myotonic muscular dystrophy is a long term genetic disorder that affects muscle function.Myotonic dystrophy is an autosomal-dominant disorder which is typically inherited from a person’s parents.There are two main types: type 1 (DM1) due to mutations in the DMPK gene and type 2 (DM2) due to mutations in the CNBP gene.

MYOTONIC MUSCULAR DYSTROPY
  MYOTONIC MUSCULAR DYSTROPY

Causes of Myotonic muscular dystrophy:

MMD is divided into two types.
→ Type 1 MMD (MMD1) occurs when a gene on chromosome 19 called DMPK contains an abnormally expanded section.
→ Type 2 MMD (MMD2) is caused by an abnormally expanded section in a gene on chromosome 3 called ZNF9.

Symptoms:

→ DM1 symptoms for DM2 include problems with executive function (e.g., organization, concentration, word-finding) and hypersomnia.
→ Both types are also associated with insulin resistance.
→ Myotonic dystrophy may have a cortical cataract with a blue dot appearance, or a posterior subcapsular cataract.

Sub-capsular catract
                            Sub-capsular cataract

→ Symptoms may appear at any time from infancy to adulthood.
→ DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart. DM affects a wide variety of other organ systems as well.
→ In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility).

Diagnosis:

→ Genetic tests, including prenatal testing, are available for both confirmed forms. Molecular testing is considered the gold standard of diagnosis.

Treatment of Myotonic muscular dystrophy:

→ There is currently no cure for or treatment specific to myotonic dystrophy.
→ Medication – Mexiletine, carbamazepine, tricyclic antidepressants, nonsteroidal anti inflammatory drugs
→ Pacemakers, Non invasive positive pressure ventilation.

Physical Therapy treatment in Myotonic muscular dystrophy:

→ Combined strengthening and aerobic training at moderate intensity was deemed safe for individuals with neuromuscular diseases.

Aerobic And Strengthening
Aerobic And Strengthening

→ Specifically, aerobic exercise via stationary bicycle with an ergometer was found to be safe and effective in improving fitness in people with DM1.
→ The strength training or aerobic exercise may promote muscle and cardiorespiratory function, while preventing further disuse atrophy.
→ Cardiovascular impairments and myotonic sensitivities to exercise and temperature necessitate close monitoring of people and educating people in self-monitoring during exercise via the Borg scale, heart rate monitors, and other physical exertion measurements.
→ Orthotics – Muscular weakness of dorsiflexors (dorsiflexion) hinders the ability to clear the floor during the swing phase of gait and people may adopt a steppage gait pattern or ankle-foot-orthotics may be indicated.
→ Factors such as hand function, skin integrity, and comfort must be assessed prior to prescription. Neck braces can also be prescribed for neck muscle weakness.

Neck Brace
Neck Brace
other related posts:
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obliquus capitis
obliquus capitis
Nitesh Patel - Physiotherapist
Author: Nitesh Patel - Physiotherapist

Physiotherapist in Samarpan Physiotherapy Clinic Ahmedabad Bapunagar Amaraiwadi Vastral Mobile Physiotherapy Clinic Dr. Nitesh Patel ( Physiotherapist ) : Mo No : 09898607803

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