Tag Archives: Weakness

April Is National Sarcoidosis Awareness Month

The following information and more can be found on The Foundation For Sarcoidosis Research’s website: www.stopsarcoidosis.org

April Is National Sarcoidosis Awareness Month

Sarcoidosis is an inflammatory disease that can affect almost any organ in the body. It causes heightened immunity, which means that a person’s immune system, which normally protects the body from infection and disease, overreacts, resulting in damage to the body’s own tissues. The classic feature of sarcoidosis is the formation of granulomas, microscopic clumps of inflammatory cells that group together (and look like granules, hence the name). When too many of these clumps form in an organ they can interfere with how that organ functions.

Sarcoidosis is a multi-system disorder. Symptoms typically depend on which organ the disease affects. Most often the disease will affect the lungs.

General: About one third of patients will experience non-specific symptoms of fever, fatigue, weight loss, night sweats and an overall feeling of malaise (or ill health).
Lungs: The lungs are affected in more than 90% of patients with sarcoidosis. A cough that does not go away, shortness of breath, particularly with exertion and chest pain occur most frequently with the pulmonary form of the disease.
Lymph Nodes: Up to 90% of sarcoidosis patients have enlarged lymph nodes. Most often they are in the neck, but those under the chin, in the armpits and in the groin can be affected. The spleen, which is part of the lymphatic system, can also be affected.
Liver: Although between 50% to 80% of patients with sarcoidosis will have granulomas in their liver, most are without symptoms and do not require treatment.
Heart: Researchers estimate that cardiac sarcoidosis, affects more than 10 percent of people with sarcoidosis in the United States, and perhaps as mHeart: any as 25 percent. Sarcoidosis can cause the heart to beat weakly resulting in shortness of breath and swelling in the legs. It can also cause palpitations (irregular heartbeat).
Brain & Nervous System: From 5% to 13% of patients have neurologic disease. Symptoms can include headaches, visual problems, weakness or numbness of an arm or leg and facial palsy.
Skin: One in four (25%) of patients will have skin involvement. Painful or red, raised bumps on the legs or arms (called erythema nodosum), discoloration of the nose, cheeks, lips and ears (called lupus pernio) or small brownish and painless skin patches are symptoms of the cutaneous form of the disease.
Bones, Joints & Muscles: Joint pain occurs in about one-third of patients. Other symptoms include a mass in the muscle, muscle weakness and arthritis in the joints of the ankles, knees, elbows, wrists, hands and feet.
Eyes: Any part of the eye can be affected by sarcoidosis and about 25% of patients have ocular involvement. Common symptoms include: burning, itching, tearing, pain, red eye, sensitivity to light (photophobia), dryness, seeing black spots (called floaters) and blurred vision. Chronic uveitis (inflammation of the membranes or uvea of the eye) can lead to glaucoma, cataracts and blindness.
Sinuses, Nasal Muscosa (lining) & Larynx: About 5% of patients will have involvement in the sinuses with symptoms that can include sinusitis, hoarseness or shortness of breath.
Other Organs: Rarely, the gastrointestinal tract, reproductive organs, salivary glands and the kidneys are affected.

Neuromuscular Disorders

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Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe.

Examples of neuromuscular disorders include

Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.

Limb-Girdle Muscular Dystrophy

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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.

Schwartz Jampel Syndrome

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Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)

SJS is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.

Synonyms

chondrodystrophic myotonia
myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies
Schwartz-Jampel-Aberfeld syndrome
SJA syndrome
SJS

Disorder Subdivisions

Schwartz-Jampel syndrome, type 2
Schwartz-Jampel syndrome, types 1A and 1B

Organizations related to Schwartz Jampel Syndrome
**Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, short stature, risk for malignant hyperthermia, etc.].