DUCHENNE MUSCULAR DYSTROPHY

DOC I HAVE DUCHENNE MUSCULAR DYSTROPHY

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a genetic disease which causes rapid weakness and wasting of muscles.

What is the cause of Duchenne muscular dystrophy?

Duchenne muscular dystrophy is believed to occur as a result of a defective gene for dystrophin (a protein in the muscles).

In Duchenne muscular dystrophy males are more likely to develop symptoms than are women.

Inheritance is usually sex-linked and recessive. The sons of women who are carriers of the disease have a 50% chance of having the disease while the daughters have a 50% chance of being carriers.

Duchenne muscular dystrophy occurs in 0.3 per cent of male infants in the population.

What are the symptoms of Duchenne muscular dystrophy?

Symptoms may appear as early as infancy and include:

1.Fatigue
2.Muscle weakness which is worse in the legs

3.waddling gait

4.use of hands to raise self from floor
4.Difficulty in running, jumping
5.Frequent falling

6,climbing stairs difficult

7.Pseudohypertrophy of the infraspinatus, deltoids , triceps and calf muscles


8.Atrophy of muscles occurs with contractures and deformity

9.Progressive difficulty in walking with ability to walk lost by 12 years of age
10.Most patients at age 12 are confined to a wheelchair.

Signs :

A complete physical examination may show:

1.Abnormal heart muscle (cardiomyopathy)
2.Congestive heart failure
3.Deformities of the chest and back (scoliosis)
4.Enlarged calf muscles which are later replaced by fat and connective tissue (pseudohypertrophy)
5.Loss of muscle mass (wasting)
6.Muscle deformities in the heels and legs
7.Respiratory difficulty due to weakness of lung muscles

Investigations:

1.Electromyography (EMG)
2.Genetic tests
3.Muscle biopsy

What is the Treatment of Duchenne muscular dystrophy?

Treatment of Duchenne muscular dystrophy are usually symptomatic to improve the quality of life as there is no cure for the disease.

Gene therapy may be able to cure by removing the defective gene in the future.

1.Physical activity is helpful to maintain muscle strength and function.
Inactivity may worsen the muscle disease.

2.massage and electrical stimulation of muscles
2.Orthopedic appliances (such as braces and wheelchairs) may increase the ability for self help.

What is the prognosis of Duchenne muscular dystrophy?

Duchenne muscular dystrophy usually leads to rapidly worsening muscular condition.
Death can occurs by age 25 typically from respiratory conditions such as pneumonia.

What are the complications of Duchenne muscular dystrophy?

1.heart disease such as cardiopathy and heart failure
2.muscle deformities such as scoliosis
3.mental impairment which is rare
4.permanent, progressive disability
5.pneumonia or other respiratory infections
6.death from respiratory failure

What is the preventive measures of Duchenne muscular dystrophy?

Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Genetic couseling will therefore be a great help to prevent the disease.

A Simple Guide to Fibromyalgia II

A Simple Guide to Fibromyalgia II
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What are the investigations needed in assessment of Fibromyalgia?
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These criteria for diagnosis of Fibromyalgia:

1.history of widespread pain lasting more than three months-affecting all four quadrants of the body, i.e., both sides, and above and below the waist.

2.Tender points-there are 18 designated tender or trigger points
During diagnosis, four kilograms-force is exerted at each of the 18 points
The patient must feel pain at 11 or more of these points for fibromyalgia to be diagnosed.

3.fibromyalgia patients show sensitivity to pressure, heat, cold, electrical and chemical stimulation.

4.hyperactivity of the sympathetic nervous system
lower heart rate variability,
sympathetic hyperactivity,

5.laboratory blood testing appears normal

6.Cerebrospinal fluid abnormalities
cerebrospinal fluid levels of substance P, a putative nociceptive neurotransmitter, is raised.
Metabolites for monoamine neurotransmitters serotonin, norepinephrine, and dopamine are lower,
Nerve growth factor, a substance known to participate in structural and functional plasticity of nociceptive pathways within the dorsal root ganglia and spinal cord, is higher
Excitatory amino acid release within cerebrospinal fluid is higher

7.Brain imaging studies
Abnormal brain involvement in fibromyalgia has been provided via functional neuroimaging
decreased blood flow within the thalamus and elements of the basal ganglia and mid-brain.
Hippocampal disruption is shown by reduced brain metabolite ratios
Normal age-related brain atrophy occur with areas of reduced gray matter located in the cingulate cortex, insula and parahippocampal gyrus.
Dopamine synthesis in the brainstem is reduced.

What is the treatment for Fibromyalgia?
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There is no cure for fibromyalgia,

B.Medical treatment:
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1.corticosteroid seems to help especially to those with adrenal dysfunction and low blood pressure.
Injection of steroids with local anethestics at trigger points or nodules can help relieve pain.

2.Analgesics are able to relieve pain:
a.NSAID medications
b.COX-2 inhibitors,
c.tramadol

3.Muscle relaxants
Muscle relaxants, such as cyclobenzaprine or tizanidine to treat the muscle pain associated with the disorder.

4.Tricyclic antidepressants
Low doses of sedating antidepressants (e.g. amitriptyline and trazodone) help to reduce the sleep disturbances associated with fibromyalgia
Amitriptyline is often favoured as it can also have the effect of providing relief from neuralgenic or neuropathic pain.

5.Anti-seizure medication
Anti-seizure drugs are also sometimes used, such as gabapentin and pregabalin
Pregabalin, originally used for the nerve pain suffered by diabetics, has been approved for treatment of fibromyalgia.

6.Dopamine agonists
Dopamine agonists (e.g. pramipexole (Mirapex) and ropinirole(ReQuip)) have been studied for use in the treatment of fibromyalgia with good results

7.Combination therapy
A combination of amitriptyline and fluoxetine appeared to be more effective in relieving pain.

8.Central nervous system stimulants
Cognitive dysfunction in fibromyalgia may be treated with low doses of central nervous system (CNS) stimulants such as modafinil, adderall or methylphenidate.
Stimulants may be habit forming and can have other serious side effects

9. Cannabis and cannabinoids
Cannabis is used therapeutically to treat symptoms of the disorder.
Cannabinoid agonists can also help in the treatment of chronic pain conditions


B.Non-drug treatment
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1. regular floatation tank sessions substantially improves sleep patterns leaving users more optimistic and with reduced nervousness, tension and pain.

Relaxing in a weightless state in the silent warmth of a floatation tank activates the body's own system for recuperation and healing

2..Whirlpool therapy is very beneficial.

C.Psychological therapies
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1.Cognitive behavioral therapy has help to improve quality of life

2.Neurofeedback has also shown to provide temporary and long-term relief

3.Biofeedback and self-management techniques such as pacing and stress management can help ,

D. Healthy lifestyle
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1. Stop smoking in smokers.

2. Reduce weight in the obese

3. Exercise to improve blood flow can improve symptoms(sleep , pain and fatigue)

4..heat to painful areas.

5. physical therapy, massage, or acupuncture

6. reduce intake of monosodium glutamate

E Surgical treatment:
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Surgery is only indicated in severe cases with limb-threatening ischemia or lifestyle-limiting claudication.

F.Investigational treatments
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a.Milnacipran, a serotonin-norepinephrine reuptake inhibitor (SNRI) has help patients in Europe.

b.Dextromethorphan is an over-the-counter cough medicine with activity as an NMDA receptor antagonist.

What is the prognosis for Fibromyalgia?
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Fibromyalgia is not degenerative or fatal,

the chronic pain associated with fibromyalgia is pervasive and persistent.

Fibromyalgia can severely curtail social activity and recreation,

Some with fibromyalgia are unable to maintain full-time employment.

It rarely affects activities of daily living.


How can Fibromyalgia be prevented?
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1.Stop smoking

2.Reduce weight

3.Exercise

4.Avoid monosodium glutamate in diet

5.Avoid stress and depression

6.Live a healthy lifestyle

A Simple Guide to Fibromyalgia I

A Simple Guide to Fibromyalgia I
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What are Fibromyalgia?
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Fibromyalgia is a common nonspecific group of syndrome characterised by diffuse chronic pain, felt in and over muscle masses with focal trigger points or tender points in muscles, joints, tendons and ligaments.

Who is at risk of Fibromyalgia?
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1.genetically predisposed.

2.more females than males, with a ratio of 9:1

3.individuals between the ages of 20 and 50

4.Increased psychosocial stress

5.Excessive physical exertion

6.Lack of slow-wave sleep

7.Changes in humidity and barometric pressure

8.Lack of normal energy


What are the causes of Fibromyalgia?
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The exact cause of fibromyalgia is unknown.

Fibromyalgia is almost always a combination of several disorders:

1.Genetic predisposition

There is a polygenic predisposition to Fibromyalgia with high aggregation of Fibromyalgia in families

2. Stress

Stress can affect cortisol levels in the body leading to widespread pain.

3.Sleep disturbance

People with fibromyalgia has short wave sleep that do not reach stage four sleep .

4.Dopamine abnormality

Dopamine is a catecholamine neurotransmitter which can cause schizophrenia, Parkinson's disease and addiction.

Abnormality in dopamine cause increased pain perception and analgesia.

5.Serotonin

Serotonin is a neurotransmitter important in regulating sleep patterns, mood, feelings of well-being, concentration and descending inhibition of pain.

Poor uptake of serotonin can cause pain and poor sleep.

6. Human growth hormone

Stress-induced problems in the hypothalamus may lead to reduced sleep and reduced production of human growth hormone during slow-wave sleep.

People with fibromyalgia has low levels of HGH.

Treatment with exogenous HGH or growth hormone secretagogue reduces fibromyalgia related pain and restores slow wave sleep.

7.Chronic fatigue syndrome patients has been known to develop fibromyalgia between onset and the second year of illness

8.Irritable bowel syndrome is found at high frequency in fibromyalgia.

9.Deposition disease

Fibromyalgia is an inherited disorder which cause gradual phosphate build-up in cells but can be accelerated by trauma or illness.

10.Other causes:

a.viral causes such as the Epstein-Barr Virus,

b.disease affecting the hypothalamus gland,

c.immune response to intestinal bacteria

d.neurotransmitter disruptions in the central nervous system

What are the symptoms of Fibromyalgia?
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Symptoms can have a slow onset

Many patients have mild symptoms beginning in childhood.

Pain:

1.Onset of pain may be sudden

2.chronic, widespread pain and tenderness to light touch

3.muscle aches(especially lower back, gluteal, neck, chest wall)

4.prolonged muscle spasms,

5.nerve pain,

6.needle-like tingling of the skin,

Fatigue:

7.moderate to severe fatigue,

8.weakness in the limbs,

Psychosomatic disturbances:

9.functional bowel disorders

10.chronic sleep disturbances.

11.cognitive dysfunction

12.impaired concentration,

13.impaired speed of performance,

14.inability to multi-task,

15.diminished attention span

16.anxiety and depressive symptoms

Eye:

17.eye pain,

18.sensitivity to light

19.blurred vision,

20.fluctuating visual clarity,