Category Archives: Symptoms

Limb-Girdle Muscular Dystrophy

What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.

In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.

Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) “stick out” from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.

Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing.

Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.

How common is limb-girdle muscular dystrophy?
It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.

Steinert’s Disease/Myotonic Dystrophy

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What is myotonic dystrophy?
Myotonic dystrophy is an autosomal dominant inherited disease characterized by wasting of the muscles (muscular dystrophy), myotonia and multisystemic conditions. Myotonic dystrophy is one of the most common neuromuscular diseases in adults. Its prevalence rate is five cases out of 100,000 inhabitants.

What are the clinical signs?
Two major clinical forms can be distinguished, although both due to defects of the same gene.

The common form in adults, which combines:

Progressive muscular dystrophy (weakness and atrophy);
Myotonia: delayed relaxation of a muscle after an initial contraction (for example difficulty to release grip after shaking hands);
Defects in other organs: eye (cataracts in nearly all patients aged 40 and more), nervous system (sleep, cognitive function, or mood disorders), heart (heart rhythm disorders and/or conduction disturbances sometimes causing sudden death), respiratory system (pneumopathies), digestive system, endocrinal glands.

The severity of the disease depends upon the age of onset, clinical signs and progression.

The congenital form combines a clinical picture of neonatal hypotonia and severe acute respiratory distress. If the child survives, the disease progresses to become a disabling condition, especially at the intellectual level. Its exclusive maternal transmission pattern is still not clearly understood.

What is the cause?
Myotonic dystrophy is an autosomal dominant inherited disease. There is a 50-50 chance that affected parents will transmit the disease to any of their children. The myotonic dystrophy gene has now been located and identified precisely (chromosome 19). It codes for a protein kinase called myotonine, the function of which remains unclear. The peculiar type of the genetic defect may partially explain the anticipation phenomenon; the severity of symptoms increases as the disease is passed on to the next generation.

Rye’s Syndrome Awareness

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Reye’s Syndrome, a deadly disease, strikes swiftly and can attack any child, teen, or adult without warning. All body organs are affected with the liver and brain suffering most seriously. While the cause and cure remain unknown, research has established a link between Reye’s Syndrome and the use of aspirin and other salicylate containing medications, over the counter products, and topical use products.

Reye’s Syndrome is a two-phase illness because it is almost always associated with a previous viral infection such as influenza (flu), cold, or chicken pox. Scientists do know that Reye’s Syndrome is not contagious and the cause is unknown. Reye’s Syndrome is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, Sudden Infant Death Syndrome, or psychiatric illness.

Reye’s Syndrome tends to appear with greatest frequency during January, February, and March when influenza is most common. Cases are reported in every month of the year. An epidemic of flu or chicken pox is commonly followed by an increase in the number of cases of Reye’s Syndrome.

When Reye’s Syndrome develops, it typically occurs when a person is beginning to recover from a viral illness.

Abnormal accumulations of fat begin to develop in the liver and other organs of the body, along with a severe increase of pressure in the brain. Unless diagnosed and treated successfully, death is common, often within a few days, and even a few hours. A person’s life depends upon early diagnosis. Statistics indicate an excellent chance of recovery when Reye’s Syndrome is diagnosed and treated in its earliest stages. The later the diagnosis and treatment, the more severely reduced are the chances for successful recovery and survival.

Atrial Fibrillation

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Atrial fibrillation, often referred to as “afib”, is an irregular heartbeat, a rapid heartbeat, or a quivering of the upper chambers of the heart, called the atria. Atrial fibrillation is due to a malfunction in the heart’s electrical system, and is the most common heart irregularity, or cardiac arrhythmia.

Is Atrial Fibrillation Serious?
While atrial fibrillation may not sound serious, and is often considered to be a minor health issue, it can actually be quite risky and potentially even life threatening.

Since the blood doesn’t properly move from the atria into the ventricles and then on to the rest of the body, it can starve the body of oxygen-rich blood, leaving you feeling weak, tired, or even incapacitated.

Even more serious is that the blood that remains in the atria can pool and create blood clots, which may get spawned to the rest of the body, causing a stroke. Stroke is not only the number three killer, it is the number one cause of permanent disability.

For more information about Atrial Fibrillation you can go to: www.stopafib.org

Caregiver Fatigue Syndrome

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Caregiver stress, aka Caregiver Fatigue Syndrome or Caregiver Burnout, is the byproduct of the countless responsibilities, physical demands, strained time and rollercoaster circumstances that come with the turf. And, since many caregivers consistently put others before themselves, if not addressed, this stress will only snowball.

It’s like the airplane oxygen illustration: Before you help others assemble their masks, you must first ensure you have your own. In this regard, before a caregiver can expect to offer their loved one in a wheelchair or loved one with a disability the best care, they must first take care of themselves.

Any imbalance, and the quality of care for your loved one can decrease while your personal stress and fatigue begin to climb.

Physical Symptoms
Many outsiders don’t realize what it takes to be a caregiver. Unless they’ve been in a similar situation, it’s hard to grasp the physical strain of all the lifts and pulls. Transport has been simplified with the help of mobility vehicles, but there are still the routine transitions from bed to bathroom to dinner and then back to bed. Caregiving is hard work.

If you experience any of the following symptoms, you may have caregiver burnout:
● Decrease in overall energy
● Decrease in immunity (subject to more frequent colds/flus)
● Inconsistent sleep patterns
● Chronic back and/or joint pain
● Weight gains

Emotional Drain
In addition to the uncertainty of medical circumstances and the rollercoaster ride that your loved one may be experiencing, it’s not uncommon for a caregiver to feel alone or assume that nobody understands their situation. Activities and hobbies that once brought you joy may be sidelined to your responsibilities and the constant championing of your loved one might not leave much room for your own pursuits.

You may experience:
● Irritability and frustration
● Difficulty relaxing
● Impatience
● Feelings of hopelessness and helplessness
● Dissatisfaction

Mental Exhaustion
Scheduling, logistics, medications and meals — caregivers are the gatekeepers, chauffeurs, advocates, cooks and everything in between for their loved one. There are too many moving parts to name. It’s no wonder things begin to get mentally draining.

Mental exhaustion may be exhibited through:
● Difficulty concentrating
● Feelings of confusion
● Periods of tunnel vision

No matter the symptoms, caregiver fatigue is a serious concern and you are not alone. Don’t buy into the idea that you’re the only caregiver facing these challenges.

If high-quality care for your loved one tops your list, remember that the best starts with the best you.