Frequently Asked Questions

• Is Dejerine-Sottas a muscular dystrophy?
• Is Dejerine-Sottas really a type of Charcot-Marie-Tooth disease (CMT)?
• Is it Dejerine-Sottas Syndrome or Dejerine-Sottas Disease?
• Does Dejerine-Sottas affect the brain?
• Does Dejerine-Sottas affect the heart?

Is Dejerine-Sottas a muscular dystrophy?

Dejerine-Sottas is not a muscular dystrophy per se, but it is considered to be under MDA's "umbrella" because the muscles are affected from not receiving signals from the nerves. Muscles will atrophy because they aren't getting the proper signals from the nervous system, but they are not diseased otherwise.

Is Dejerine-Sottas really a type of Charcot-Marie-Tooth disease (CMT)?

In their attempts to understand and classify this disease, doctors have referred to Dejerine-Sottas by a veritable host of names.

Reply from MDA: Yes, Dejerine-Sottas syndrome (DS or DSS) is a form of CMT. There has been some confusion in the terminology use in the CMT group of disorders. In reality, CMT is a clinical and genetically heterogeneous disorder. The Dejerine-Sottas syndrome or Hereditary motor and sensory neuropathy type 3 (HMSN III), or CMT3, was originally described as an autosomal recessive interstitial hypertrophic neuropathy of infancy. The early onset of the symptoms, the severity of the clinical features and the presence of the enlarged nerves suggest the diagnosis. However, the same phenotype (clinical features) can be seen in some cases of CMT1A and in homozygous (both parents affected) CMT1A cases. In fact, most DDS cases tested represent de novo point mutations (new mutations) in either Myelin Protein Zero (CMT 1B) or PMP 22 (CMT1A). Most cases represent dominant alleles and not recessive alleles as originally described by DDS before all genetic tests were available. The syndrome may be a variant of CMT1A or CMT1B. My own personal opinion is that the Dejerine-Sottas syndrome and the Roussy-Levy and other eponyms should and will disappear soon. If your physician suspects DSS, you should be tested for point mutations in both chromosomes 1 and 17. And dependent on the testing already performed, you may need further tests to confirm or rule out a diagnosis of DDS.

Is it Dejerine-Sottas Syndrome or Dejerine-Sottas Disease?

syndrome

A group of symptoms that collectively indicate or characterize a disease, psychological disorder, or other abnormal condition.

disease

A pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and characterized by an identifiable group of signs or symptoms.

Does Dejerine-Sottas affect the brain?

Short answer: No. Dejerine-Sottas is a disease of the peripheral nervous system, not the central nervous system. Intelligence is normal.

Slightly longer answer: Of course, that does not preclude the existence of other conditions affecting intelligence.

Long answer: I can find one article describing a case where Dejerine-Sottas was linked to schizophrenic symptoms (A case of Dejerine-Sottas disease with schizophrenic symptoms: A clinical and pathological study, also see the original Japanese version). Another article presents A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study. but notes that higher structures were not affected.

Lastly, this article (also in Japanese) describes A case of Dejerine-Sottas disease with central nervous system involvement, but since there is no translation available, I have no further details at this time. In any case, involvement of the brain in Dejerine-Sottas--whether by correlation or causation--is very, very rare indeed.

Does Dejerine-Sottas affect the heart?

Short answer: No.

Slightly longer answer: Dejerine-Sottas may result in a sedentary lifestyle, and that will weaken the heart over time. Do your best to stay active.

Long answer: In Hypertrophic peripheral neuropathy (Dejerine-Sottas disease) associated with heart block. Case report presentation and review of the literature, "severe involvement of the cardiac conductive tissue causing syncopal attacks" in one man is reported. This is the first and only time cardiac involvement is described.