Women with ALD can experience symptoms similar to men with AMN later in life. Symptoms vary in women, but many times include bowel and bladder dysfunction, pain in the extremities, and walking difficulties. Cerebral disease and adrenal insufficiency are rare in women with ALD, so symptom management is key. Until recently, women with ALD were recognized as “carriers”, who did not show symptoms of ALD, but with new research, women are recognized as actually having ALD, and thus receiving improved medical care.
Symptoms may include some, all, or none of the following: muscle weakness, spasticity, bowel and bladder dysfunction, numbness, tingling, pain, gait issues, deterioration of fine motor control. Symptom management can include medications to improve spasticity issues and blower and bladder dysfunction. Physical and occupational therapy has also proven to aid in retaining fine motor skills as well as assisting with gait. Regular physicals and consultations with urologists, physical therapists, and neurologists are very important for symptom management.
Many women are not diagnosed until a family member is diagnosed with ALD. Mothers of babies identified by newborn screening do not usually know they have ALD until they find out that their baby does. Diagnosis is commonly done with a blood test to identify above average levels of very long chain fatty acids (VLCFAs) with the caveat that up to 20% of women with the ALD gene mutation will have average appropriate VLCFA levels , which may result in a “false negative.” The most accurate means of diagnosis for a woman is through genetic testing to determine mutations in the ABCD1 gene. The earlier women are diagnosed with ALD, the easier it is to begin symptom management.
Standard of Care
At this time, we are not aware of any published standards of care or clinical trials for women with ALD. With new research and increased focus on female symptoms, this will change.
These notes from our Symptomatic Women’s Call with Dr. Ali Fatemi 4.26.2021 might be helpful.
Due to women receiving more attention as ALD patients and not only “carriers” of ALD, discussion on an appropriate term for women has been prominent. Many physicians who are not experts in ALD still do not consider women to present with clinical symptoms of ALD, so education for providers is extremely important. Many patients also do not know how to refer to themselves. Some say women with ALD, others say women with AMN, and some want a new name for females all together. Here, we attempt to answer some of your questions, with assistance from researchers and medical providers on our Board of Directors.
What IS the right thing to say?
Stephan Kemp, a professor at Amsterdam UMC-AMC authored the paper linked below and gives the following explanation: “AMN means adrenomyeloneuropathy, which is the combination of adrenal insufficiency (adreno) and spinal cords disease (myeloneuropathy). As women do not develop adrenal disease AMN cannot be the correct name. Women either are affected with ALD or myelopathy. But since myelopathy is a difficult word and not specific to ALD alone “women with ALD” or “females with ALD” is the correct term.”
Why can’t we have a new name for females in our disease community?
Recent discussion with patients, doctors, and researchers about the need for a separate name for women has been very helpful in understanding the thoughts and feelings of our patients. We are already a rare disease group and by creating a NEW name for females, it breaks that rare disease group down even more, making something that is already rare, even rarer.
Why do some doctors say women with AMN?
Because women have only recently been recognized as symptomatic patients and not just carriers of ALD, information and research are constantly evolving. Women with AMN was originally thought to be a good term, but with new research identifying novel symptoms for females with ALD and lack of adrenal insufficiency, the umbrella term of ALD is much more accurate. Female AMN is shorthand for doctors and researchers, and with time, all will grow accustomed to saying women with ALD.