Muscle is better known for its ability to flex and give shape to a body. Like any other part of the body, muscles too are prone to diseases. Muscle Diseases, like any other kind of disease and infection, can affect anybody. It can even make a person physically disabled. The Muscle Diseases often make the person weak. The person suffering from Muscle Diseases is under constant pain and feels weakness in the muscles. He or she finds it difficult to walk, sit and get up, climb, run, lift or carry, or move the limbs. In most cases, progressive muscle wasting followed by contraction of muscles takes place. Muscle Diseases vary in their conditions and require different types of treatment. While some treatments respond to medicine, the others have ‘only’ a chance of improvement. Muscle Diseases may be caused due to various reasons. Some Muscle Diseases are genetic. These are caused due to defective genes in the body. Such diseases are genetic disorders that can make the individual permanently disabled, physically.

Genetic Muscle Diseases often need not be inherited from a parent with a family history of genetic disorder. This can happen spontaneously, due to gene abnormality. These diseases may affect the eyes, cause muscle wasting and even paralysis. The most well-known disease of the muscle occurring genetically is Muscular Dystrophy, or muscle-wasting disease. This is caused by the error in the gene and can affect anybody at any age. It is also known to affect the heart in some cases. Duchenne Muscular Dystrophy (DMD), a muscle-wasting disease, affects only boys, unlike muscular dystrophy. There are other diseases that are non-genetic Muscle Diseases. These are acquired gradually and not caused genetically. These diseases may be caused by body’s own immune system, some kind of hormonal imbalance or even a disorder caused by the intake of medicines.

One such acquired disease is the inflammatory Muscle Disease, where the immune system of the body injures its own muscles. There are the metabolic Muscle Diseases, which may not be as common as the other Muscle Diseases. But once affected it has very little chance of recovery. These are caused by deficiencies in the enzymes. The symptoms begin with weakness of the muscles, until the condition of the ailing person deteriorates. For instance, the Carbohydrate-Processing Disorders is a type of metabolic disease where the breakdown of glycogen or glucose is affected.

CAPS (cryopyrin-associated periodic syndrome) is a group of rare genetic diseases that can cause rashes, fevers, joint pain, and other inflammatory symptoms. These symptoms often occur after exposure to cold or damp air or a drop in temperature, but symptoms may also show up for no clear reason. Cryopyrin is a protein responsible for triggering the inflammation and painful symptoms of CAPS. A malfunction in this protein is what these diseases have in common. Three syndromes comprise CAPS: Familial Cold Auto-inflammatory Syndrome (FCAS), (previously termed Familial Cold Urticaria), Muckle-Wells Syndrome (MWS) and Neonatal-Onset Multisystem Inflammatory Disease (NOMID), which also is referred to as Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCA).

Familial Cold Autoinflammatory Syndrome is the most common and least severe type.
* Symptoms: Rash, headache, fever, feeling tired, sore or red eyes, and muscle or joint pain
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature
* Duration of symptoms: Typically last no more than 24 hours

Muckle-Wells Syndrome is more severe than FCAS.
* Symptoms: Those symptoms listed above, as well as loss of hearing. High protein levels are detected during screening and are a sign of the disease
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature, weakness of the body, or other reasons that are not yet known
* Duration of symptoms: Usually last between 1 and 3 days

Neonatal-Onset Multisystem Inflammatory Disease is the most severe type.
* Symptoms: All of the above mentioned symptoms, as well as loss of eyesight, swelling of the knees, and mental disability
* Onset of symptoms: Almost always at birth
* Trigger of symptoms: Reasons that are not yet known
* Duration of symptoms: Continuous with symptoms worsening from time to time

Diagnosis of CAPS is often missed due to the rarity of these conditions (low index of suspicion). Furthermore, some symptoms of CAPS may be similar to findings of more common diseases such as systemic JIA and systemic lupus erythematosus. Some features of FCAS may be mistaken for Acquired Cold Urticaria (ACU), a more prevalent condition. Both demonstrate cold-induced rash; however, in ACU, the rash is usually localized to sites of direct cold exposure, whereas in FCAS, the inflammation is more generalized, being systemic in nature.

Cryopyrin-Associated Periodic Syndromes are a rare and newly discovered group of autosomal-dominant disorders that can best be diagnosed through analysis of family history, compilation of clinical history, including age of primary presentation and frequency/duration of episodes, physical examination, laboratory and histological testing, and genetic analysis. Not all CAPS patients have detectable genetic mutations.

Are you or other family members troubled by recurring rashes, fevers, aching joints, and other symptoms? It’s time to take action. Learn about CAPS – Cryopyrin-Associated Periodic Syndromes, a group of rare genetic diseases that runs in families and can be passed down through generations at CapsFamilyConnections.com. Take a few minutes to complete the screener. Your answers can help you take a more active role in your medical care, and that of others.