Kennedy Disease Treatment & Management

  • Author: Paul E Barkhaus, MD; Chief Editor: Nicholas Lorenzo, MD   more...
 
Updated: Sep 7, 2010
 

Medical Care

  • No proven, effective treatment of Kennedy disease (KD) is available.
    • In a limited study of 2 patients, empiric therapy with high-dose testosterone failed to show consistent benefit.[62] Nevertheless, some rationale supports the use of testosterone in KD.[33]
    • Leuprorelin acetate is a luteinizing hormone-releasing hormone agonist. A phase 2, randomized, placebo-controlled trial of leuprorelin acetate in 50 patients with spinal and bulbar muscular atrophy for 48 weeks appeared to show some benefit based on cricopharyngeal opening duration (videofluorography) and reduced mutant AR accumulation (scrotal skin biopsy).[63] In an editorial on this trial, Fishbeck and Bryan cautioned on the results with respect to using cricopharyngeal opening duration as a surrogate marker.[64] A 48-week trial may also be too short given the chronicity of the disease.
    • From August 2006-March 2008, the Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) was performed as a 48-week, randomized, double-blind trial with 204 patients. The authors concluded that treatment with leuprorelin did not show significant effects on swallowing function in patients with spinal and bulbar muscular atrophy, but leuprorelin was well tolerated.[65] While disease duration might influence the efficacy of leuprorelin, more clinical trials with sensitive outcome measures should be done. A 48-week trial may be too short given the chronicity of the disease.
  • Overall management of KD is directed at maintaining maximal function in the presence of this slowly progressive disease.
  • The severity and progression of illness should be monitored.
    • Despite what appears to be ongoing, slowly progressive weakness, assessing the patient's strength and tolerance to exertion, along with any compromise in activities of daily living or occupation, is important.
    • The results of such assessment allows for thoughtful, proactive management to minimize the patient's risk for falls, to optimize his or her mobility, and to provide for appropriate assistive devices as the disability increases.
  • Certification for disabled parking should be made when appropriate.
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Surgical Care

Some patients with marked dysphagia may require a gastrostomy tube. Okamoto et al (2004) advocate the use of spinal epidural anesthesia in appropriate settings, such as internal urethrotomy.[66]

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Consultations

Depending on degree of weakness, input from the physical therapist or physiatrist may be useful in optimizing the patient's abilities. If clinically significant dysphagia occurs, appropriate evaluation of his or her swallowing (eg, video radiographic swallow study) is indicated. This evaluation may need to be repeated to ascertain the need for and timing of gastrostomy-tube placement.

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Diet

No special diet is needed in most cases, unless symptomatic dysphagia occurs.

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Activity

The patient's activity level depends on his or her condition. Aerobic exercise in the form of a formal training program was not found to be of benefit.[67]

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Contributor Information and Disclosures
Author

Paul E Barkhaus, MD  Professor, Department of Neurology, Medical College of Wisconsin; Director of Neuromuscular Diseases, Milwaukee Veterans Administration Medical Center

Paul E Barkhaus, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Neurological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Rodrigo O Kuljis, MD  Esther Lichtenstein Professor of Psychiatry and Neurology, Director, Division of Cognitive and Behavioral Neurology, Department of Neurology, University of Miami School of Medicine

Rodrigo O Kuljis, MD is a member of the following medical societies: American Academy of Neurology and Society for Neuroscience

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Neil A Busis, MD  Chief, Division of Neurology, Department of Medicine, Head, Clinical Neurophysiology Laboratory, University of Pittsburgh Medical Center-Shadyside

Neil A Busis, MD is a member of the following medical societies: American Academy of Neurology and American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Ortho McNeil Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Speaking, consulting

Chief Editor

Nicholas Lorenzo, MD  Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants

Nicholas Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology

Disclosure: Nothing to disclose.

References

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Note wasting in the thighs and shoulders. The arms hang down and are rotated internally so that the thumbs point toward the patient (ie, simian posture) rather than forward, as in a healthy individual. This observation strongly suggests weakness in shoulder girdle muscles (copyright Paul E. Barkhaus, MD, 2000, with permission).
Prominence of breast tissue consistent with gynecomastia in Kennedy disease (copyright Paul E. Barkhaus, MD, 2000, with permission).
The forehead of this patient with Kennedy disease is smooth, in fact, too smooth for a man this age. The smoothness is particularly noticeable when the patient tries to perform upgaze, when wrinkling of the forehead due to contraction of the frontalis is expected (copyright Paul E. Barkhaus, MD, 2000, with permission).
Photographs show asymmetry at rest due to facial weakness, which is enhanced when the muscles are activated by pursing the lips (copyright Paul E. Barkhaus, MD, 2000, with permission).
Note the scalloping of the borders of the tongue, which strongly suggests wasting. In addition, the marked wasting of the large group of glossal muscles on each side has caused them to separate and form a midline furrow (copyright Paul E. Barkhaus, MD, 2000, with permission).
Motor-unit action potentials recorded from the biceps brachii in a patient with Kennedy disease. Upper tracing shows 2 action potentials discharging during low-to-moderate effort. In a healthy person, additional discharges are expected. (Calibration is 1 mV per division on the vertical axis and 10 ms per division on the horizontal axis.) Potential on the left is approximately 1.2 mV and 26 ms. It is moderately increased in amplitude, almost twice the upper limit in duration, and shows marked irregularity or serrations (ie, turns) in the main component. Potential to the right is markedly increased in amplitude (approximately 3.3 mV), and its duration is at least 30 ms but cannot be measured on this tracing because it extends off to the right and qualifies as a giant motor-unit action potential. Bottom tracing shows the same 2 potentials at standard setting used to view motor-unit action potentials (0.1 mV per vertical division), which emphasizes their large size and complexity (ie, increased number of changes in polarity of the waveform) (copyright Paul E. Barkhaus, MD, 2000, with permission).
Recording of motor-unit action potentials from the pectoralis muscle in a patient with Kennedy disease. (Calibration is 1 mV per division on the vertical axis and 10 ms per division on the horizontal axis.) The patient's level of effort in activation is high. Therefore, the number of motor unit action potentials clearly is reduced, and the individual potentials observed are enlarged, consistent with a chronic neurogenic process (copyright Paul E. Barkhaus, MD, 2000, with permission).
Table 1. Primary Differential Diagnoses of Kennedy Disease
DiseaseDifferentiating Characteristics or Tests
ALSUpper motor neuron involvement with tendency for distal-greater-than-proximal weakness[47]
Spinal muscular atrophySee Table 2 below
Fascioscapulohumeral muscular dystrophyAutosomal dominant pattern with myopathic findings on muscle biopsy and EMG, positive genetic marker
Myasthenia gravis - Adult acquired formExtraocular muscle frequently involved, EMG consistent with neuromuscular transmission disorder, acetylcholine receptor antibodies frequently positive
Oculopharyngeal muscular dystrophyAutosomal dominant pattern, late onset, predominant involvement of bulbar muscle with ptosis and mild ophthalmoparesis, EMG and muscle biopsy results consistent with myopathic process, positive genetic marker
Hexosaminidase A deficiencyRectal biopsy, enzyme assay
Sandhoff diseaseRectal biopsy, enzyme assay
Syphilis (neurovascular form)Positive serology
Lead neuropathyIndex of suspicion based on potential exposure; anemia; elevated serum, blood, and urine lead levels
Motor neuron disease with macroglobulinemiaMonoclonal gammopathy[48]
Autosomal dominant cerebellar ataxia type IAmyotrophy occasionally prominent finding in SCAs, particularly types II and III; other clinical and laboratory findings suggest condition other than a pure motor-neuron process; appropriate tests of genetic markers for SCA
PolymyositisElevated serum creatine kinase, EMG and muscle-biopsy results consistent with inflammatory myopathy
Cervical spondylosisRostral cervical segmental myotomes (eg, C5, C6) commonly affected, but pattern on EMG testing is highly localizing; possible pyramidal-tract signs if spondylosis compresses spinal cord at same segmental level; no evidence of lower motor-neuro involvement in legs; imaging (eg, cervical MRI, myelography with low-dose CT) findings correlated with suspected lesion
Facial onset sensory and motor neuropathy (FOSMN syndrome)[49, 50] Slow progressing, trigeminal-onset sensory loss that may spread to upper limbs and torso, associated with lower motor syndrome with prominent bulbar involvement
Table 2. Patterns of Hereditary Spinal Muscular Atrophies that May Resemble Kennedy Disease
PatternCharacteristics*
Bulbar hereditary motor neuropathy affecting lowest 6 cranial nerves (Fazio-Londe disease)Autosomal recessive, onset in childhood, limbs not affected; when associated with deafness, pattern called Vialleto-van Laere disease, which may be X-linked or autosomal dominant
Scapuloperoneal hereditary motor neuropathyVariable transmission: dominant, recessive, X-linked; pattern of weakness as described; bulbar muscles spared
Fascioscapulohumeral hereditary motor neuropathyAutosomal dominant, pattern of weakness as described
Hereditary motor neuronopathy with oculopharyngeal involvementDescribed in Japanese individuals; autosomal recessive or dominant; ophthalmoplegia, dysarthria, and dysphagia
Hereditary proximal motor neuropathyVariable dominant or recessive inheritance; onset usually in first 2 decades; bulbar muscles spared
Hereditary distal motor neuropathyUsually recessive inheritance; onset usually in first 2 decades; bulbar muscles spared; autosomal-dominant distal spinal muscular atrophy linked to chromosome 7 (same locus as that of hereditary sensorimotor neuropathy type 2D)[51]
*In none of these diseases are results of test for the KD marker positive, and associated endocrinopathy or sensory nerve conduction abnormality should be absent.
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