INFORMATION ON BULBOSPINAL MUSCULAR ATROPHY

Bulbospinal Muscular Atrophy is a wide group of genetic disorders characterized by primary degeneration of anterior horn cells of the spinal cord, resulting in progressive muscle weakness. Some forms of muscular dystrophies are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness, age of onset, rate of progression, and pattern of inheritance. In addition to muscle weakness, clinical features include head lag, poor sucking and swallowing, weak cry, proximal limb weakness, and lack of reflexes.

SYNONYMS OF BULBOSPINAL MUSCULAR ATROPHY

Synonyms and related keywords:

1. Bulbospinal muscular atrophy.
2. Fazio-Londe disease.
3. Kennedy syndrome.
4. Progressive muscular atrophy.
5. Vialetto-van Laere syndrome.

CAUSES OF BULBOSPINAL MUSCULAR ATROPHY

Bulbospinal Muscular Atrophy is caused by genetic defects, which mean they are inherited at birth. This condition affects fewer than 1 in 50,000 males and is very rare in females. Certain muscles in the face and throat are also affected, which causes progressive problems with swallowing and speech.

SYMPTOMS OF BULBOSPINAL MUSCULAR ATROPHY

Weakness in muscles of the mouth, throat, face and limbs. A person who has muscular dystrophies may start to stumble, waddle, have difficulty going up stairs, and toe walk. A patient may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle.

DIAGNOSIS OF BULBOSPINAL MUSCULAR ATROPHY

Lab tests may include blood level of the muscle enzyme creatine kinase; muscle biopsy; Electromyogram to check muscle response when stimulated; and genetic tests for the presence of the mutated gene for DMD, BMD, DM, several forms of LGMD, and EDMD. An electrocardiogram may also be needed.

TREATMENT OF BULBOSPINAL MUSCULAR ATROPHY

Treatment is symptomatic and supportive. No specific treatment is known. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful. Physical therapy, exercise, orthopedic appliances, or corrective orthopedic surgery may help to preserve muscle function and prevent joint contractures as much as possible and improve quality of life. Treatment includes:

1. Heel cord surgery.
2. Spine-straightening surgery.
3. Medications - corticosteroids.