Kennedy’s disease is an inherited motor neuron disease that affect males. It is one of a group of disorders called spinal muscular atrophy (SMA). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy’s disease is an x-linked recessive disease, which means the patient’s mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy’s disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor. Due to its endocrine manifestations related to the impairment of the AR gene, SBMA can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neuro-degenerative diseases caused by similar mutations, such as Huntington’s disease and the spino-cerebellar ataxias.
The characteristic symptoms in combination with test results of neurological examinations should raise the suspicion of Kennedy disease. A neuro-physiological examination will show essentially normal peripheral nerve conduction. The sensory nerve conduction may, however, be slightly impaired. An EMG test (electromyography) may detect chronic denervation, indicating that the pathway between the spinal cord motor neurons and the muscle fibres is partially blocked. In some cases, a muscle biopsy is performed. Like the EMG, it will show signs of denervation. The diagnosis can be confirmed by DNA analysis.
Currently there are no known cures or treatments for Kennedy’s Disease. Some individuals living with KD do take medications prescribed by their medical doctor to help alleviate various symptoms. Others have reported that stretching exercises help with cramps and pain.
Blood tests to check your erythrocyte sedimentation rate — commonly referred to as the sed rate.
Neurophysiological examination: Neuropsychological evaluation (NPE) is a testing method through which a neuro-psychologist can acquire data about a subject’s cognitive, motor, behavioral, linguistic, and executive functioning. In the hands of a trained neuro-psychologist, these data can provide information leading to the diagnosis of a cognitive deficit or to the confirmation of a diagnosis, as well as to the localization of organic abnormalities in the central nervous system (CNS). The data can also guide effective treatment methods for the rehabilitation of impaired patients.
Electromyography: A technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph, to produce a record called an electromyogram. An electromyograph detects the electrical potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect medical abnormalities, activation level, or recruitment order or to analyze the bio-mechanics of human or animal movement.
Muscle biopsy: A procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. A muscle biopsy can lead to the discovery of problems with a nervous system, connective tissue, vascular system, or musculoskeletal system.