Tag: spinal muscular atrophy

Spina Bifida – What is Spina Bifida?


Spina bifida is a serious birth defect that occurs when the tissue surrounding the developing spinal cord of a fetus does not close properly during the first month of pregnancy. It is part of a group of birth defects called neural tube defects, a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings.

In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the backbone. Infants born with spina bifida sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. Spina bifida may also cause bowel and bladder complications, and many children with spina bifida have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

The three most common types of spina bifida are:

  • Myelomeningocele. The severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine.
  • Meningocele. The spinal cord develops normally but the meninges protrude from a spinal opening.
  • Occulta. The mildest form, in which one or more vertebrae are malformed and covered by a layer of skin.

Spina bifida is one of the more common birth defects in the United States. The incidence of spina bifida can be decrease by up to 70 percent when a daily folic acid supplement is taken prior to conception.

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What is Muscular Atrophy, and What Causes Denervation and Disuse Atrophy?


What does atrophy mean, and what causes atrophy of a muscle?

The definition of Atrophy, according to Human Anatomy and Physiology (Marieb, 8th Edition) is “reduction in size or wasting away of an organ or cell resulting from disease or lack of use”. Atrophy is also referred to as “muscle wasting”.

Atrophy of a muscle can occur in 2 ways – from disuse or denervation.

Disuse atrophy will occur when a person is unable to use a muscle for any number of reasons. It is very common when a limb has been cast from a break or fracture, or a person has been on bed rest for a extended length of time. Once a person is mobile again, or a cast has been removed, the client should undergo a rehabilitation process designed to challenge and strengthen the involved structures. Assuming that the atrophy was only caused by lack of use, the patient will eventually regain strength and normal size of the muscle.

Denervation atrophy occurs when the nerve supply to a muscle is interrupted and the muscle no longer receives signals or stimulus from the nervous system. This type of atrophy can occur from injury to the central nervous system, as in a spinal cord injury, or in the peripheral nervous system, such as a broken bone which damages surrounding nerve. Damage doesn’t necessarily mean a complete severing of the nerve, in which case nerve tissue is not known to regenerate. Damage will occur in varying degrees of severity, and may be a result of compression (impingement), crushing or partial tearing. If this is the case, with proper care and rehabilitation the injury will heal and muscle strength can be regained.

Why is this important to a Massage Therapist?

Massage therapists are specialists in treating the dysfunctions of the musculoskeletal system, and understanding the anatomy of the involved structures is key to providing a successful treatment. Odds are that you will see quite a few conditions throughout your career that will either cause, or have the potential to cause, muscle atrophy. Conditions such as chronic Thoracic Outlet Syndrome or Carpal Tunnel Syndrome may cause denervation atrophy due to impingement or compression of the ulnar nerve root and median nerve respectively, and can be successfully resolved once the underlying cause of the compression has been addressed.

Atrophied tissue is very fragile, and deep techniques are contraindicated until the condition of the tissue improves. Initially, the primary goal of treatment for atrophied tissue is to increase circulation and to stimulate the nerves – this can be accomplished by gentle dry brushing, followed up by light stimulating techniques such as stroking, effleurage or c-scooping. Great care must be taken if there has been crushing or tearing of the nerve, as any local techniques which apply pressure or traction can disrupt the healing of the injury.

It is highly recommended that you consult with the client’s physician, physiotherapist or chiropractor to verify the cause of atrophy, and that you work under his or her supervision and guidance if the atrophy is caused by denervation.

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List of Rare Birth Defects


Birth defects are caused by a wide range of factors. It can be a hereditary abnormality, meaning, the defect has been inherited from the parents or ancestors. At the same time, the defect can also be a result of chromosomal disorder. Traits are detected by the time of fertilization. When an error occurs, a chromosomal abnormality occurs and results to birth defects. Common birth abnormalities such as Tay-Sachs and Down Syndrome can be given treatment more conveniently. However, rare birth defects, sometimes need more attention given the fact that treatment for such kind of abnormalities still remain limited. These defects vary both in intensity and in characterization. In the web for instance, photos of birth defects, can show us a variation of how birth defects manifest in the body. In these article, we will share with you a list of some rare birth defects.

Aglossia – If a baby has Aglossia, he is born without a tongue. Such kind of anomaly is common among those who have congenital and developmental problems particularly those in the cranio-facial area and the limbs.

Albinism – This abnormality is the congenital absence of melanin. Characterized by either a total lack or partial lack of melanin pigment in the hair, skin and the eyes. More often than not, those affected with this condition suffer visual difficulties like sensitivity to glare and bright lights.

Anencephaly – This congenital defect is characterized by the absence of the spinal chord and the brain. To date, there remains no cure or standard treatment for this defect. Most of the babies born with Anencephaly do not survive birth.

Aniridia – Babies born with Aniridia are born without an iris at birth. Most of the time, this occurs in both eyes. This is associated with a poor development either at the back of the eye or right in the retina which prevents the normal vision development.

Brachydactylia – This is an abnormal condition which characterizes short fingers.

Cleft foot and hand – This is a rare inherited anomaly which comes with a split or lobster foot and hand. In this case, a single cleft even extends promixally into the hand and the foot. This occurs in the conjunction with the clawing of the hands.

Club foot – This is another congenital foot deformity wherein the foot is twisted and down. There remains no treatment for this abnormality which is why patients are forced to walk either on their ankles or on the sides of the feet.

Heterochromia – This is an ocular condition wherein one iris is in different color from the other iris.

Darwinian ear – Another congenital deformity concerning a deformity on the helix of the ear.

Chromatelopsia – This is a condition of color-blindness. This is a visual defect wherein colorless objects appear tinged with color.

Polydatyly – This condition can be treated surgically among infants. This is characterized by the presence of additional fingers and toes.

While it remains difficult to tell whether or not you are prone to giving birth to an infant with birth defect. The good part is that some of these malformations can now be treated medically. However, still, some of these congenital rare birth defects offer no medical solution to date. Given this, it is very important that you take a prenatal examination prior to pregnancy to help ensure a safer delivery and healthier baby.

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