Myopathies

A disease of muscles, Myopathy causes problem to muscles that control the voluntary movements. In this neurological disorder, skeletal muscles such as the quadriceps in the thigh and biceps in the upper arm are affected. This disease can be caused because of inherited genetic defects or due to endocrine, metabolic or inflammatory disorders.

In a majority of cases, inherited Myopathies have a genetic basis and thus can be easily transferred from parents to their children. On the other hand, endocrine Myopathies are not genetic disorder rather they result from abnormal activities of the thyroid gland.

Prevalence of Myopathy

Approximately 14% of inheritable Myopathies incidences have been reported worldwide. While the prevalence of muscular dystrophy is more in males, inflammatory Myopathies are more common in females. Metabolic Myopathies are very rare but they are fast being diagnosed in males in the US.

Myopathies Symptoms

Inheritable Myopathies: Inheritable Myopathies are present at birth and can lead to:

Severe Muscle Weakness.
Difficulty in Breathing and Swallowing.
Stiffness of Muscles.
Temporary Fatigue.
Normal Level of Consciousness.
Endocrine Myopathies.

Diseases of endocrine system including pituitary glands, thyroid, ovaries, suprarenal, and parathyroid results in multisystem symptoms, which are:

Muscle Stiffness.
Weakness of The Muscles.
Slowed Reflex.
Atrophy of Muscles Around Hips.
Muscle Breakdown.

This neurological disease also comes with an array of acute symptoms, which include:

Weakness Developing Over a Period of Few Days.
Weakness Progressing Over Hours Leading to an Episode of Paralyzes.
Proximal Muscle Weakness.
Weakness of Distal Muscles.

Myopathies causes

Myopathies can be caused by a number of reasons. Let’s take a look at the main causes of inherited Myopathies and non-inherited Myopathies.

Inherited Myopathies: Mutation and gene changes are the main cause of inherited Myopathies. The mutations interfere with the ion channels and cause too little or too much current flow through the cells. When there is a mutation in the muscle protein, it gives rise to myotubular myopathy and the muscles do not form properly.
Non-inherited Myopathies: Deficiency or excess of hormones from the thyroid gland is the main cause behind acquiring of non-inherited Myopathies. This type is also sometimes referred to as endocrine Myopathies.

Inheritance Pattern

You must have heard someone say, “It does not run in the family, how could I acquire it genetically?” Well, the answer here is, if only one blood relative in the family is suffering from Myopathies, there are high chances that you will acquire inheritable Myopathies. This is because it can be inherited in a number of ways:

Autosomal Recessive.
X-Linked.
Autosomal Dominant.
Spontaneous Mutation.

A good way to find out more about inheriting Myopathies is to talk to your genetic counselor and avoid making guesses.

Myopathies Diagnosis

The diagnosis begins with the evaluation process. Neurological examinations are conducted to test the strength and reflexes. These exams can help the neurologists detect and determine the problem with the histories, muscle contraction and muscle tone.
Having the right information, help the neurologist distinguish an inherited myopathy from other neurological conditions that affect muscle function. However, to be sure of the condition, the doctors can perform several specialized tests.

Genetic Test.
Muscle Biopsy.
Electromyography (EMG).
Thyroid Test.

Medical Management

Inheriting Myopathies often comes with life threatening complications; however with the right treatment and physical therapies, some people are able to gain muscle strength. Others who are facing endocrine Myopathies can manage their symptoms with quick modifications in their lifestyle, through medication or with the use of orthopedic equipment.

Emergency Care

Severe myopathy may result in a respiratory problem, associated cardiomyopathy, aspiration and heart block. Therefore it is important to take the patient to the nearest hospital as soon as possible. You can consult a rheumatologist, neurologist or an infection disease specialist to get the right treatment on time.