Can charcot marie tooth disease be diagnosed by having all criteria but normal nerve conduction studies?  

Subtypes. There are many subtypes of charcot-marie tooth disease, which appear differently on emg/nerve conduction studies. It would be unlikely to have CMT with completely normal studies. Genetic testing for CMT would give you a definative diagnosis and identify the subtype. A nerve biopsy is an alternate method of diagnosis, but has potential risk.
Unusual. It would be very unusual for charcot marie tooth to look completely normal on nerve conduction studies. I would want some objective confirmatory evidence (e.g. Nerve biopsy, genetic testing) before being comfortable saying that CMT is responsible and abandoning the search for other possible causes.
Need further w/u. If all the diagnostic work-up in inconclusive or genetic testing comes back negative, a neurologist may perform a nerve biopsy to confirm the diagnosis. This is a very good overview. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#173513092.
Not sure what you. Mean by all criteria, but electromyelogram and nerve biopsy can also help with diagnosis.

Related Questions

How can the doctor diagnose charcot-marie-tooth disease?

NCS or Biopsy. The hallmark of CMT is a very even loss of myelin, the insulation surrounding nerves, as opposed to the patchy loss seen in some autoimmune neuropathies. Electrodiagnostic testing can identify this functionally, by noting a uniform slowing of nerve conduction velocity, while nerve biopsy can confirm it anatomically. Additionally, genetic tests can definitively confirm a majority of cases. Read more...
4 Test available. Nerve conduction studies. These tests measure the strength and speed of electrical signals transmitted through your nerves. Electromyography (emg). A thin needle electrode is inserted through your skin into the muscle to be tested. Nerve biopsy. A small piece of peripheral nerve is taken from the calf of your leg through an incision in your skin. Genetic testing by blood sample. Read more...

I have charcot marie tooth disease and have had breathing problems and sweat a lot. Is this normal with cmt?

Maybe. Cmt is a spectrum of disorders that generally manifest as peripheral motor & sensory nerve problems. While some types can affect breathing, they usually manifest at a young age. In adults CMT usually affects leg & arm nerves/muscles more & is unlikely to cause sweating. Sweating may be a side effect of a medication. I would get your breathing checked out to make sure it's not something else. Read more...
Yes. For more information: www.ninds.nsh.gov 1800 352 9424 muscular dysetrophy assoc. www.mda.org www.Cmtana.Org. Read more...
Yes. Cmt affects both the sensory & motor nerves. Often patients experience difficulty walking, breathing, talking, & often have difficulty with regulation of skin temperature. Read more...

What is charcot-marie-tooth disease and how do I get tested for it?

It is a neurological. hereditary disorder affecting the motor and sensory nerves usually affecting the foot and leg muscles. Please see a neurologist. . Read more...
See a neurologist. Charcot-Marie-Tooth disease are muscle weakness and decreased muscle size, considered a hereditary, neurological disorder. See a neurologist for evaluation, tests, imaging and management. Read more...

What is charcot-marie-tooth disease and how do I get tested for it?

Charcot Marie Tooth. Charcot Marie Tooth disease is a Genetic disease that effects the peripheral nerves. There are genetic tests that can be done for this condition. Read more...
See a neurologist. Charcot-Marie-Tooth disease are muscle weakness and decreased muscle size, considered a hereditary, neurological disorder. See a neurologist for diagnosis and management. Read more...

I have charcot-marie-tooth disease. Is there any thing I can do to slow progression?

Non Medicaly. There's no cure for charcot-marie-tooth disease. However, some treatments can help you manage its signs and symptoms. Medications for pain and ifection. Physical therapy occupitional therapy orthopedic devices surgery. Read more...
Reference Sites. http://www.nhs.uk/conditions/charcot-marie-tooth-disease/pages/treatment.aspx and http://health.Nytimes.Com/health/guides/disease/charcot-marie-tooth-disease/overview.Html. Read more...

What parent is charcot marie tooth disease inheritable from?

Both. There are numerous different types of chacot-marie-tooth. Some are autosomal dominant, some autosomal recessive, and others x=linked. Read more...
Either Parent! Cmt is caused by defects in the genes for proteins that affect axons. Cmt can be inherited in several ways:autosomal dominant (faulty gene contributed by either parent);autosomal recessive (faulty gene contributed by each parent);or x-linked (gene on the x chromosome contributed by either parent.) in other words, unlike color-blindness, which is a sex-linked trait, CMT seems to come from either. Read more...

From which parent is charcot marie tooth disease inherited from?

Either. There are many forms of CMT disease, including cmt1, cmt2, cmt3, cmt4, and cmtx. Some are autosomal dominant (1 copy of the gene necessary to manifest), some recessive (2 copies necesary), and one x-linked (only on x chrmosome). Consider this link: http://www.Medicinenet.Com/charcot-marie-tooth-disease/article.Htm. Read more...
Not sure. This is not a tooth issue, this disease is a periphery nerve disorder, placed in the wrong section. Read more...
Of the many types & . Subtypes of cmt, the more common are inherited as mutations in one or more genes from either parent in an autosomal dominant pattern (50% chance for each child to inherit it.) some types are autosomal recessive; each child has a 25% chance if both parents are carriers. X-linked types & those from mutations in mitochondrial dna, come from mother. Some people have more than one type.See genedx.Com. Read more...

What is an effective treatment for charcot marie tooth disease (cmt)?

I am sorry, but. There is no known treatment for cmt. The symptoms can only be managed at this time. Read more...
None. Cmt is not tooth related. The word tooth is the name of one of the doctors who discovered it. There is no effective treatment currently -most treatment is done to relieve symptoms. This can include physical and occupational therapy etc... Read more...
Multiple specialists. Treatment is symptomatic. A multispecialty team of rehabilitation specialists including a physiatrist, neurologist, orthopedist, physical therapist. Since CMT is very slowly progressive, management is symptomatic, involving foot function. Read more...