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Becker muscular dystrophy

Becker muscular dystrophy or BMD is one of the nine types of muscular dystrophies characterized by muscle wasting and weakness which is mainly proximal. it is caused by mutations in the same genes as is the case with Duchenne muscular dystrophy. Becker muscular dystrophy is also caused by a mutation of the dystrophin gene, which is responsible for the body to make the protein dystrophin, that is essential for normal muscle function. However, BMD is less severe and is slow in its progression and generally, walking difficulties begin after the age of 16. Becker muscular dystrophy affects only boys and young men, and women are generally only the carriers of the mutated gene.


Symptoms of BMD

Becker muscular dystrophy affects the muscles of the hips, pelvic area, thighs and shoulders, as well as the heart. The symptoms typically start to surface during adolescence and become clearly noticeable by the time the child reaches his mid teens. The health of the patient worsens over time and shortens his life expectancy. The majority of people diagnosed with BMD do not survive beyond 40 or 50 years.


Some of the symptoms include:


  • Delay in walking and running for young children

  • Unexplained clumsiness

  • Cramps during exercise

  • Unable to join school sports

  • Weak muscles near torso

  • Enlarged calf muscles

  • Difficulty lifting weights and climbing stairs

  • Falling and finding it hard to get up again

  • Heart problems

  • Complete inability to walk

  • Cardiomyopathy

Diagnosis and treatment

The following are some of the diagnostic tests conducted before confirming the Becker muscular atrophy. Serum test for assessing creatine kinase as raised CK levels call for further investigation.


  • Genetic analysis to detect abnormal dystrophin gene

  • Muscle biopsy - for dystrophin staining

  • Testing for Cardiomyopathy

Treatment of BMD

There is no permanent cure for any muscular dystrophy. Becker muscular dystrophy needs to be managed according to the particular symptoms of each patient. The main aim of the treatment is to optimize the muscle functioning and increase the quality of the life. Physiotherapy, steroid medications, orthopaedic aids such as splints, braces, and genetic counseling go a long way in giving support to the patient.

Pyoderma Gangrenosum

Pyoderma gangrenosum is a rare condition with necrotic tissue causing deep and painful ulcers on the skin. Though it can affect any part of the skin, Pyoderma Gangrenosum often develops on the legs. The condition initially starts as small, red blisters and subsequently forms into painful deep and swollen open sores. The exact cause of Pyoderma gangrenosum is not known. However it is associated with dysfunction of immune system in the body. Those who are prone to this condition will have a tendency to develop ulcers at the site of wounds and cuts. People with following underlying conditions are also at the risk of developing Pyoderma Gangrenosum:



Symptoms of Pyoderma Gangrenosum

Large and open ulcer is the most obvious symptom of Pyoderma Gangrenosum. Ulcers are extremely painful and cause weakness in the body. The edge of the ulcer often looks purplish with fluid or pus oozing out of the ulcer.


Diagnosis

There is no specific test that confirms the condition. However few blood tests and a biopsy of the ulcer is usually ordered to decide on the course of treatment. Blood tests are conducted to check for the extent of infection and also for Liver, kidney and thyroid functions. Another blood test called rheumatoid factor test is also performed to assess rheumatoid arthritis, a condition associated with Pyoderma gangrenosum. Skin Biopsy is also carried out to confirm the diagnosis. The wound is swabbed and cultured to examine the bacteria under microscope.


Treatment of Pyoderma Gangrenosum

Pyoderma Gangrenosum requires immediate medical attention as it can progress quickly. Typically, non surgical treatment is followed in treating the condition which involves wound management, topical steroid ointments, oral steroid medications. Prednisolone is the most commonly used steroid medication along with antibiotics such as dapsone and minocycline to treat Pyoderma Gangrenosum. As this condition is believed to be the result of overactive immune system, Immunosuppressants such as ciclosporin, mycophenolate mofetil, and infliximab, are also used in severe cases.

The outlook for Pyoderma Gangrenosum is very positive as the ulcer eventually heals with medication. However, it tends to leave some scarring in the affected area.



ACTH Test

ACTH also known as adrenocorticotropic hormone is a hormone produced by the pituitary gland. This hormone in turn regulates the production of another important hormone cortisol, made by adrenal glands. Cortisol, known as a 'stress hormone', controls varied reactions in our body that take place in response to stress. Cortisol regulates blood pressure and blood sugar levels in the body and helps in maintaining immune function and anti-inflammatory processes. ACTH travels through the bloodstream to the adrenal glands and stimulates the adrenals to release cortisol. An ACTH blood test is done to measure the level of the adrenocorticotropic hormone in the blood.


Too much or too little ACTH level reveals problems related to adrenal glands or pituitary glands. High level of ACTH points to problems with adrenal glands and low level of ACTH may imply defective pituitary glands. The results of ACTH test is extremely useful in diagnosing Cushing syndrome and adrenal insufficiency.

Higher values of ACTH test are associated with one of the following conditions:



Lower levels of ACTH could mean adrenal tumor, Exogenous Cushing syndrome or hypopituitarism, a pituitary dysfunction leading to little or no production of hormone.


Preparing for the test

Patient should not eat or drink for 10 hours prior to the test. It is advisable to take a diet low in carbohydrates for two to three days before the test. Exercise and alcohol should be avoided for 12 hours before the test. Few steroid medications result in low levels of ACTH, hence patient should share all the information regarding the current medication with the doctor. Patient should not have undergone any medical test that uses a radioactive tracer for a week before an ACTH test.


ACTH levels do not remain in the same range through the day. The plasma ACTH levels are highest in the morning and start to decline during the waking hours. Therefore, blood is usually collected in the morning hours or multiple blood samples are sought for accurate diagnosis.

The Normal reference range is as follows:

Morning: Less than 80 pg/mL or less than 18 pmol/L

Evening: Less than 50 pg/mL or less than 11 pmol/L

A significant deviation from the normal range could mean defective adrenal glands or pituitary gland and further investigation is ordered for the accurate diagnosis.

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Bibliography / Reference

Collection of Pages - Last revised Date: November 22, 2019