The National Organization for Rare Disorders (NORD), P.O. Box 8923, New
Fairfield, CT 06812, (203) 746-6518
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or
treatment purposes. If you wish to obtain more information about this
disorder, please contact your personal physician and/or the agencies listed
in the “Resources” section of this report.
Lyme disease is a tick-transmitted inflammatory disorder characterized
by an early focal skin lesion, and subsequently a growing red area on the
skin (erythema chronicum migrans or ECM). The disorder may be followed
weeks later by neurological, heart or joint abnormalities.
The first symptom of Lyme disease is a skin lesion. Known as erythema
chronicum migrans, or ECM, this usually begins as a red discoloration
(macule) or as an elevated round spot (papule). The skin lesion usually
appears on an extremity or on the trunk, especially the thigh, buttock or
the under arm. This spot expands, often with central clearing, to a
diameter as large as 50 cm (c. 12 in.). Approximately 25% of patients with
Lyme disease report having been bitten at that site by a tiny tick 3 to 32
days before onset of ECM. The lesion may be warm to touch. Soon after
onset nearly half the patients develop multiple smaller lesions without
hardened centers. ECM generally lasts for a few weeks. Other types of
lesions may subsequently appear during resolution. Former skin lesions may
reappear faintly, sometimes before recurrent attacks of arthritis. Lesions
of the mucous membranes do not occur in Lyme disease.
The most common symptoms accompanying ECM, or preceding it by a few
days, may include malaise, fatigue, chills, fever, headache and stiff
neck. Less commonly, backache, muscle aches (myalgias), nausea, vomiting,
sore throat, swollen lymph glands, and an enlarged spleen may also be
Most symptoms are characteristically intermittent and changing, but
malaise and fatigue may linger for weeks.
Arthritis is present in about half of the patients with ECM, occurring
within weeks to months following onset and lasting as long as 2 years.
Early in the illness, migratory inflammation of many joints
(polyarthritis) without joint swelling may occur. Later, longer attacks
of swelling and pain in several large joints, especially the knees,
typically recur for several years. The knees commonly are much more
swollen than painful; they are often hot, but rarely red. Baker’s cysts
(a cyst in the knee) may form and rupture.
Those symptoms accompanying ECM, especially malaise, fatigue and low-
grade fever, may also precede or accompany recurrent attacks of arthritis.
About 10% of patients develop chronic knee involvement (i.e. unremittent
for 6 months or longer).
Neurological abnormalities may develop in about 15% of patients with
Lyme disease within weeks to months following onset of ECM, often before
arthritis occurs. These abnormalities commonly last for months, and
usually resolve completely. They include:
1. lymphocytic meningitis or meningoencephalitis
2. jerky involuntary movements (chorea)
3. failure of muscle coordination due to dysfunction of the cerebellum
4. cranial neuritis including Bell’s palsy (a form of facial paralysis)
5. motor and sensory radiculo-neuritis (symmetric weakness, pain,
strange sensations in the extremities, usually occurring first in
6. injury to single nerves causing diminished nerve response
7. inflammation of the spinal cord (myelitis).
Abnormalities in the heart muscle (myocardium) occur in approximately
8% of patients with Lyme disease within weeks of ECM. They may include
fluctuating degrees of atrioventricular block and, less commonly,
inflammation of the heart sack and heart muscle (myopericarditis) with
reduced blood volume ejected from the left ventricle and an enlarged heart
When Lyme Disease is contracted during pregnancy, the fetus may or may
not be adversely affected, or may contract congenital Lyme Disease. In a
study of nineteen pregnant women with Lyme Disease, fourteen had normal
pregnancies and normal babies.
If Lyme Disease is contracted during pregnancy, possible fetal
abnormalities and premature birth can occur.
Lyme disease is caused by a spirochete bacterium (Borrelia Burgdorferi)
transmitted by a small tick called Ixodes dammini. The spirochete is
probably injected into the victim’s skin or bloodstream at the time of the
insect bite. After an incubation period of 3 to 32 days, the organism
migrates outward in the skin, is spread through the lymphatic system or is
disseminated by the blood to different body organs or other skin sites.
Lyme Disease was first described in 1909 in European medical journals.
The first outbreak in the United States occurred in the early 1970’s in Old
lyme, Connecticut. An unusually high incidence of juvenile arthritis in the
area led scientists to investigate and identify the disorder. In 1981, Dr.
Willy Burgdorfer identified the bacterial spirochete organism (Borrelia
Burgdorferi) which causes this disorder.
Lyme Disease occurs in wooded areas with populations of mice and deer
which carry ticks, and can be contracted during any season of the year.
Rheumatoid Arthritis is a disorder similar in appearance to Lyme
disease. However, the pain in rheumatoid arthritis is usually more
pronounced. Morning stiffness and symmetric joint swelling more commonly
occur in rheumatoid arthritis, and knotty lumps under the skin may be
present over bony prominences. Bony decalcification which can be
prominent in Rheumatoid Arthritis is detected on X-rays.
Brachial Neuritis, also known as Parsonnage-Turner Syndrome, is a
common inflammation of a group of nerves that supply the arm, forearm, and
hand (brachial plexus). It is characterized by severe neck pain in the
area above the collarbone (supraclavicular) that may radiate down the arm
and into the hand. There also may be weakness and numbness (hyperesthesia)
of the fingers and hands. Although many cases have no apparent cause, this
syndrome may occur following an immunization (tetanus or diptheria),
surgery, or infection with Lyme Disease.
For adults with Lyme disease the antibiotic tetracycline is the drug of
choice. Penicillin V and erythromycin have also been used. In children
penicillin V is recommended rather than tetracycline. Penicillin V is now
recommended for neurological abnormalities. It is not yet clear whether
antibiotic treatment is helpful later in the illness when arthritis is the
most predominant symptom. Treatment should be started as soon as the rash
appears, even before the Enzyme Linked Immunoabsorbent Assay (ELISA) test
is completed. Results of this test may be inaccurate if patients have had
antibiotics soon after contracting Lyme Disease, or in those who have
weakened immune systems.
If lyme Disease is contracted during pregnancy, careful monitoring by
physicians is highly recommended to avoid possible fetal abnormalities
For tense knee joints due to increased fluid flowing in the joint
spaces (effusions), the use of crutches is often helpful. Aspiration of
fluid and injection of a corticosteroid may be beneficial. If the patient
with Lyme disease has marked functional limitation, excision of the
membrane lining the joint (synovectomy) may be performed for chronic (6
months or more despite therapy) knee effusions, but spontaneous remission
can occur after more than a year of continuous knee involvement.
When Lyme Disease is contracted during pregnancy, treatment with
penicillin should begin immediately to avoid the possibility of fetal
In 1989 a new Lyme Disease antibody test, manufactured by Cambridge
Biosciences Corp., was approved by the FDA. This test is being used by
local laboratories throughout the nation, making tests more available to
the general population. However, it is 97% specific for antibodies to Lyme
disease when compared to Western blot tests, but it cannot identify the
live bacteria in patients who have not yet developed the antibodies.
Researchers are trying to develop a test that will identify the Lyme
disease bacteria in patients who have not yet developed the antibodies.
This would enable doctors to diagnose Lyme disease very early in the course
of the illness.
This disease entry is based upon medical information available through
July 1989. Since NORD’s resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
For more information on Lyme Disease, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812
Lyme Borreliosis Foundation, Inc.
P.O. Box 462
Tolland, CT 06084
Lyme Disease Clinic
1000 North Oak Ave.
Marshfield, WI 54449
The National Arthritis and Musculoskeletal and Skin Diseases Information
Bethesda, MD 20892
Lyme Disease Clinic
Yale New Haven Hospital
333 Cedar Street
New Haven, CT 06510