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Symptomatic Women

Women with adrenoleukodystrophy (ALD) experience neurological symptoms such as progressive stiffness, weakness in the legs, and difficulty with mobility. Other symptoms may include pain, bladder and bowel dysfunction. Adrenal insufficiency and cerebral ALD are very rare in women. While the neurological symptoms in women tend to progress more slowly, they can still significantly impact quality of life. Due to the often delayed onset of symptoms, many women may not realize they are affected until later in life. Regular monitoring and symptom management are crucial for maintaining mobility and function. Women with ALD are active participants in the disease experience and require the same level of care and attention as affected males.

Symptomatic Women

Diagnosis

Women are diagnosed with adrenoleukodystrophy (ALD) primarily through genetic testing, which identifies mutations in the ABCD1 gene. While biochemical testing that measures very long-chain fatty acids (VLCFAs) is commonly used for diagnosing ALD in males, it is less reliable in women. About 15% of women with ALD have normal VLCFA levels, leading to potential false negatives. For this reason, genetic testing is the preferred diagnostic method, as it can accurately detect the presence of the ABCD1 gene mutation.

Additionally, a more specialized blood test measuring C26:0-lysophosphatidylcholine (C26:0-LPC) levels can be used, as it is considered more accurate in women. Diagnosis may often occur incidentally when a family member, such as a son or brother, is diagnosed with ALD, prompting genetic testing in other family members. In women with symptoms of myelopathy (spinal cord disease), the diagnosis might be suspected based on clinical symptoms and confirmed through genetic testing.

Symptomatic Women

Symptoms

Women with adrenoleukodystrophy (ALD) can experience symptoms that range from mild to severe and may include difficulty walking, muscle stiffness, pain, and bowel or bladder dysfunction—paralleling some of the challenges faced by men with adrenomyeloneuropathy (AMN). Although cerebral ALD and adrenal insufficiency are extremely rare in women, the impact of spinal cord disease can significantly affect quality of life.Symptoms may include some, all, or none of the following:

Ataxia: loss of the ability to coordinate muscle movement
Falling or tripping
Fatigue and sleep disturbances
Hypertonia: excessive muscle tone
Peripheral neuropathy: pain, numbness, or tingling in the legs or feet
Sexual dysfunction
Spastic paraparesis: gradual, progressive weakness and stiffness of the legs
Urinary disturbances or incontinence and bowel urgency or incontinence
Walking and balance problems: general leg weakness and stiffness as well as decreased balance that can progress to difficulty walking or an unusual gait (mobility devices such as canes, walkers, and wheelchairs may be needed over time)

Symptomatic Women

Standard of Care

Currently, there is no cure available for symptomatic women with ALD. Current treatments aim to alleviate some of the symptoms of the disease. Symptom management can include medications to improve spasticity issues and bowel and bladder dysfunction. Many patients also undergo regular physical and/or occupational therapy. Work with your care team to find a treatment plan that works for you. Because cerebral ALD and adrenal insufficiency are extremely rare in women with ALD, current standards of care do not recommend routine monitoring for these manifestations in girls or women with ALD. Regular physicals and consultations with urologists, physical therapists, and neurologists are very important for symptom management. Current standards of care recommend yearly exams to follow-up on myelopathy symptoms in symptomatic women with ALD.

Resources

ALD Connect hosts a Community Call for Symptomatic Women each month. This call is usually on the fourth Monday of each month at 7 PM Eastern. Be sure to follow us on social media and subscribe to our newsletter to watch for the announcements. You can also bookmark our Community Calendar, which is where we post the links to register for the Community Calls. ALD Connect also hosts a peer mentor program, which connects less experienced community members to more experienced members of a similar phenotype. You can apply for a peer mentor here.

On August 7, 2021, ALD Connect hosted a Bootcamp for Symptomatic Women with ALD. The recordings are below.

Get Involved

Symptomatic Women Video Resources

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Overview of Symptoms in Women with ALD

Dr. Florian Eichler
Moderator: Kathleen O’Sullivan-Fortin

Symptom Management

Dr. Pablo Gomery
Camille Corre
Dr. Melissa Trovato
Moderator: Kathleen O’Sullivan-Fortin

Coping with Your ALD Diagnosis

Dr. Deborah Renaud
Julie Chu
JoAnn Locy
Moderator: Jesse Torrey

Looking Ahead – Future Studies

Dr. Wolfgang Koehler
Dr. Lisa Schaefer
Jamison Seabury
Moderator: Kathleen O’Sullivan-Fortin

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Additional Resources

On July 22, 2022, ALD Connect hosted an Externally-Led Patient-Focused Drug Development Meeting to educate the FDA on adult manifestations of ALD, including AMN and adult cerebral ALD. View the recording and our resulting Voice of the Patient Report here.

International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy.
Dr. Wolfgang Köhler’s Quality of Life in Women With X-linked Adrenoleukodystrophy clinical trial.
Dr. Florian Eichler and Dr. John Winkelman’s publication about Restless Legs Syndrome in X-linked adrenoleukodystrophy.
Dr. Florian Eichler and Camille Corre’s publication Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.
Dr. Florian Eichler’s poster, Neurological Disease Burden in Females with X-linked Adrenoleukodystrophy.

Terminology

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. Please find answers to some of your frequently asked questions here.

What terminology does ALD Connect use?

Many physicians who are not experts in ALD still do not consider women to have 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. At ALD Connect, we refer to female patients as “(a)symptomatic women with ALD” to most accurately represent the manifestation of the disease in women. This is also the terminology recommended by an international group of ALD experts in the International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy.

What IS the right thing to say?

In recognition that women are not just “carriers” of the disease but are ALD patients themselves, a group of international ALD experts recommends referring to female patients as “asymptomatic /presymptomatic” or “symptomatic women with ALD” instead of terms such as “heterozygotes” or “carriers”.

Dr. Stephan Kemp, ALD Connect Board Member and Professor at UMC-Amsterdam explains, “AMN means adrenomyeloneuropathy, which is the combination of adrenal insufficiency (adreno) and spinal cord 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 “(a)symptomatic women with ALD” is the correct term.” ALD is the name of the entire phenotypic spectrum. From a presymptomatic newborn identified in NBS with elevated C26:0-LPC and a confirmed pathogenic mutation to cerebral ALD, isolated adrenal disease, myelopathy, and all the possible combinations. Over the years we have come to realize that trying to generate a table with specific subtypes and phenotypes and then percentages isn’t very helpful as the disease may change over time and patients would move from one grid in the table to another.

Click here to read Dr. Stephan Kemp and Dr. Marc Engelen’s paper, “Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history”.

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 an accurate term, but with new research identifying symptoms for females with ALD and lack of adrenal insufficiency, the umbrella term of ALD is more accurate.