Adrenomyodystrophy

December 31, 2014

Synonyms

Overview

A rare genetic disorder characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation and an overly-distended bladder which can cause death.

Symptoms

Dystrophic myopathy
Chronic constipation
Failure to thrive
Severe psychomotor retardation
Overdistention of bladder

Causes

There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease.

Diagnosis

The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In some cases, a DNA blood test may be all that is needed. In medicine, a muscle biopsy is a procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

Treatment

Physical therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful. Physical therapy (or physiotherapy is the provision of services to people and populations to develop, maintain and restore maximum movement and functional ability throughout the lifespan.

Wheelchair seating in a theater: A standing frame (also known as a stand, stander, standing technology, standing aid, standing device, standing box, tilt table) is assistive technology used by a child or adult who uses a wheelchair for mobility.

There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition when an individual with a muscular dystrophy grows and the muscles don't move with the bones and can easily be slowed down and/or make the individual's body straighter by daily physical therapy), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine but no actual long term treatment has been found. Contracture can refer to: Dupuytrens contracture Volkmanns contracture Capsular contracture.