Fainting Goat Syndrome – Symptoms, Causes, Diagnosis, Treatment

What is Fainting Goat Syndrome?

The fainting goat syndrome is technically known as the human congenital myotonia or myotonia congenita. The condition was basically coined as the “fainting goat syndrome” because it was first identified in fainting goats. This syndrome is an inherited autosomal dominant condition that affects the voluntary skeletal muscles, most specifically our striated muscles. The condition is derived from transient spasms involving the skeletal muscles. The tactile, visual and auditory stimuli is said to be affected.

Myotonia Congenita Involving Muscle Rigidity in the Lower Extremities Causing Sudden Fainting

The said syndrome was first identified in goats, which served as a logical basis of myotonia. It has been reported that the affected goats present signs of myotonia and a severe form of muscle spasms. Because of such observance, the goat’s manifestations were the source and model in understanding better the condition myotonia. As the condition has been identified to humans, medically it has become known as congenital myotonia. The condition was first described by Dr. JuliusThomsen in the year 1876, where his family has suffered from the disease. In addition, the condition is also referred as the Thomsen’s disease. According to studies, this condition is rare affecting 1 out 100,000 people.

A Typical Scenario of Fainting Goat Syndrome

This neuromuscular inherited disease should not be confused with myasthenia gravis, Kearns-Sayre syndrome and as well as the Lambert-Eaton syndrome. These three syndromes are greatly dissimilar in presentation and most especially of cause.

Symptoms

Those affected of the fainting goat syndrome presents a distinctive manifestation which is muscular rigidity as one is about to initiate a movement. As this occurs, the tendency of the affected is to perform several repetitive actions. The following are the other manifestations of the syndrome:

• First manifestation is the delayed relaxation of one’s eyelids. There shall also be a forceful closure of the eyelids as one tends to sneeze or when one is about to cry.
• Distinctively, the patient shall have a painless, muscle rigidity. The upper extremities and the facial muscles are affected parts of the body. Accordingly, the condition is most prominent in the lower extremities thus causing ineffective or difficulties in ambulation. The rigidity is either mild to moderate in intensity.
• As most neuromuscular conditions, this can cause for the client to have difficulties in managing the issues with their physical state. There are restricted motor developments that cause self-esteem problems. Fortunately, the condition does not involve any form of disability in their cognitive area.

Causes

The condition, as identified in the 19th century, is believed to be caused by some sort of genetic mutation impairing a person’s skeletal muscle chloride channel – thus increasing the sarcolemmal(cell membrane of our muscle cell – specifically in the skeletal, cardiac and smooth) intensity leading to delayed relaxation. The condition is involved with a dysfunction of the chloride conductibility and certain mutations affecting the skeletal muscles.

Genetics

The condition is considered as an autosomal dominant inheritance, meaning one inherited gene from a parent causes the disease. One of the parents is considered the carrier of the faulty gene. The said mutation is known as the chloride channel gene known as CLCN1. This alteration results to reduction of the chloride ability to conduct appropriately thus leading to membrane/cell hyper excitability.

Diagnosis

Diagnosis of the condition can be attained through a complete collection of the client’s medical history. The careful noting of their inherent diseases is essential in diagnosing the disease. Aphysical examination is also a help in identifying firstly; the presenting symptoms of the client. The following are the proposed tests for the syndrome:

• EMG or electromyography test shall asses for any myotonic discharges in the muscles. This can monitor any potential signs of the disease.
• Nerve stimulation is performed in order to assess for any form of decline in the muscle action potentials. Conduction problems are identified.

Treatment of Fainting Goat Syndrome

The treatment for this fainting goat syndrome is aimed in decreasing and managing the presenting symptoms. The following are the proposed remedies for the syndrome:

• Quinidine and quinine (antimyotonic agents) are prescribed to patients. Procaine, mexiletine, carbamazepine, and phenytoin were also provided to clients. These drugs are known to blocksodium channels.
• Taurine is noted to provide resting chloride conduction and transmission of skeletal muscles. Thus resulting to decreased excitability of the muscles.
• Providing relaxation techniques to the client can be beneficiary. This can also provide mental rest.
• Recommending exercise is an also beneficiary. As this can improve the patient’s flexibility and thus decreasing the increasing form of muscle strains.