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Symptomatic Females?

ClaireNatalie Message
25 Jan 2015, 08:12 PM

Ladies, I was diagnosed with AMN at 18years old, along with 4 other family members. Although females are usually carriers, all the females in my family are symptomatic to the same degree at the males, so chances are I'll be symptomatic too. I already have a couple of characteristics (I'm 23years old) but nothing major. Can I ask any other symptomatic females when they started noticing physical signs and symptoms? Thanks x
Loribeth82 Message
26 Jan 2015, 05:52 PM

Hi ClaireNatalie, I was just diagnosed with Adrenomyeloneuropathy a few weeks ago. I am a 32-year-old female, and have had similar experiences. I have symptoms of neuropathy, ataxia, leg weakness and incontinence that have been progressing over the past decade. My symptoms were apparent enough that I first sought medical evaluation 7 years ago (age 25), and that was prompted primarily by balance issues and some loss of sensation in my lower legs/feet. Testing confirmed, back then, that I had reduced nerve conduction. But there were subtle indicators in the few years before that. In particular, if I drank alcohol, there was something "off." After just a drink or two my coordination was impacted as though I had had 5-6 drinks, meaning my gait was very wobbly, I was prone to falling over, etc. What characteristics have you experienced so far? Beth
ClaireNatalie Message
26 Jan 2015, 07:21 PM

Thanks for getting back to me Beth. I noticed my balance tends to be off sometimes, and my walking seems more 'Clumsy' than it used to be. I have an overactive bladder which I know is a symptom. I also have pain in my knees but this could be related to something else. I only ask because everywhere I read that symptoms occur around 28years old and I keep thinking I'm being a hypercondriac. Thanks again for your time, Claire x
Angsipe3 Message
5 Feb 2015, 03:30 PM

I am waiting for the results of the genetic testing to see of I have AMN. But my muscle test was fine. But I was told that I have an over active central nervous system. Anyone else ever heard this? I wasn't impressed by the neurologist?
SusieHite Message
9 Feb 2015, 12:07 PM

Hi Claire I just joined this group. I am 40 years old and was diagnosed when I was 18. My symptoms started in my teens and yes one of the first symptoms was knee pain. My daughter was diagnosed when she was 15 however we had suspected for a long time she was going to have it. Her knee pains started when she was 8. Even tho my daughter is only 20 she has several of the symptoms I have at 40. I was diagnosed symptomatic when I was 21 when My oldest son and I went to Kennedy Krieger Institute and Johns Hopkins Hospital in Baltimore MD as part of the studies there. He was in the Lorenzos Oil study and I was seen to be tested for symptoms. At that time I was the youngest symptomatic female they had seen. Later after my son passed away in 2001 I joined the Lorenzos Oil study for women. To name a few more of the symptoms we currently have we both have severe feet and hand cramps, severe charlie horses, balance issues, we are always dropping things and our hands just don't seem to work quite right, migraines, I have had severe pain in my neck, shoulders, upper and lower back, and hips since I was in my mid 20's, urination frequency issues' and hypothyroidism which they are seeing more and more in us females. I hope that information did not scare you, We have had 4 generations of our family, 5 family members seen by Dr Hugo Moser and Dr Gerald Raymond in Baltimore and they have told us our family is a very rare case. I hope I didn't go too much into detail and overstep my bounds any. Susie
ClaireNatalie Message
17 Mar 2015, 08:35 PM

Susie, Thank you so much for all the information, and I am very sorry to hear about your son. We have lost 2 boys in our family due to the condition. I have the overactive bladder, knee pain due to bad kneecaps, and a few other things, but I do have other health issues so it is difficult to pinpoint what is what. My doctors have suspected hypothyroidism for a few years now, but my blood tests show negative (I know this can be the case). We are at least 3 generations of AMN, possibly 4 however all of the relatives in that generation have passed and were never tested. It's so hard having a condition which is so hard to explain, and where so little research and knowledge is available! Claire x
justme2 Message
18 Mar 2015, 10:04 AM

Hi. I am also a symptomatic female carrier with AMN. I first noticed urinary issues in my mid 30s after having kids, so all docs blamed it on that, but I knew it was more than that. Also started having strange paresthesias and neuropathy in my legs. I was adopted as an infant, so I had no knowledge of my family history. After 2 years of wrong diagnoses, I asked to be checked for the ALD gene and it was positive. I am under the care of Kennedy Krieger, but the docs there don't seem to believe my severe back and leg pain is stemming from the AMN. Nothing else has been found that would cause it, but it is one of the main reasons I was seeking medical care in the first place! I was told at my last visit, "We don't see pain as a symptom of AMN, even in women", but in my own research, it seems somewhat typical of women with AMN if not men. I am nearing 40, and though the pain is increasing, my coordination and paresthesias seemed to have stabilized for the time being...not great but not too bad. Thankfully our son turned out to be negative for the gene. We are still waiting for them to be willing to test our daughter. Thanks!