The Diagnosis

mrt

Every person affected can tell you a thing or two about it. Finding a doctor who takes the symptoms described seriously is just as arduous as the path to a (potential) diagnosis. When those affected look back, many things sometimes become clearer and they wish that someone had come up with the idea of taking a look outside the pigeonholes sooner.

Neurological diseases in particular are very diverse, so it is perfectly okay if the usual suspects are checked out first. It’s just a shame if it’s left at that. In my case, for example, MS and Lyme disease were first suspected and ruled out by various tests. The neurologist did see that some muscles were atrophied and some nerves were barely registering, but he didn’t find that to be particularly noticeable. Neurologist No. 1 wanted to leave it at that and examine me again after half a year.

Because of a surgical problem (delayed wound healing) I was meanwhile in another doctor’s office. The treating surgeon directly suspected a specific polyneuropathy. With this I went to Neurologist No. 2, who did similar examinations and was again surprised that certain nerves in the leg did not give any feedback and he also discovered atrophied muscles. But Neurologist No. 2 didn’t find that worrisome either.

Because of an additional bladder problem I went to the urologist. After several appointments and examinations, he diagnosed a neurogenic bladder, which could possibly be related to the neurological disease. With his referral, I then went to Neurologist No. 3, who finally took my complaints seriously. She had noted a failure of various reflexes and also the delayed nerve conduction velocities.

It was here that hereditary sensorimotor neuropathy was first suspected. In Germany more common is the abbreviated form HMSN or more commonly in English CMT (Charcot-Marie-Tooth).

This suspicion was now to be confirmed. First in a human genetics laboratory, where Panel 1 and later Panel 2 were tested. This means that a number of genes known to trigger the disease are examined. Unfortunately, neither study shed any light on the disease. But that does not rule out the possibility that it is not. Due to the fact that it is a rare disease, there are also not many doctors and researchers studying it.

Only 70% of those suffering from CMT can be identified by the first genetic test. Of the remaining 30%, human geneticists only find it in 20%-40%. The search now becomes much more difficult, because the later CMT manifests itself in the affected person, the poorer the hit rate. At the same time, the number of gene mutations is so large even in a healthy person that the effort to find exactly the gene defect responsible for the disease in the affected person is extremely high.

In the end, this means that there are still some affected people who have to live with the suspected diagnosis. Very helpful is my neurologist, who not only certifies the suspected diagnosis, but also the consequences of the polyneuropathy as tetraparesis. This diagnosis has been and continues to be very helpful in officiating.

Recent findings related to CMT:

  • Autonomic nerves may also be affected, which may explain trophic disturbances.
  • Balance disorders are common
  • Bladder weakness can also be associated with CMT (this has always been ruled out in the past)
  • CMT is often only part of another disease, which can further complicate the diagnosis
  • A high CK level is not uncommon in affected individuals and should be considered a consequence rather than a cause.
  • Many concomitant symptoms of CMT are still unexplained, such as the hollow foot that occurs in many affected individuals.

Another human genetic test can be that all close relatives (who are also affected) get together for a pool test. This involves comparing everyone’s genes to see if a genetic defect is not seen in all of them. This narrows down the possible suspects.

However, the final diagnosis remains difficult, mainly because not all other diseases can be ruled out. Unfortunately, even in special muscle centers, the interest of physicians to continue on the path of diagnosis is noticeably decreasing. As a patient, you are then at the mercy of the doctors, because at some point there are no more contact points that you can go to for further help. It is therefore all the more important that at least the family doctor, neurologist and, if necessary, orthopedist stand by the patient.

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