Paula and Bobby
Parents of Lillie
Chronic Inflammatory Demyelinating Polyneuropathy
What is Chronic Inflammatory Demyelinating Polyneuropathy?
Chronic Inflammatory Demyelinating Polyneuropathy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
To be included under this category, the patient should manifest a slowly progressive or intermittent (relapsing or stepwise progression) mixed motor and sensory neuropathy with slow conduction velocities usually with a non-uniform distribution conduction block, a raised CSF protein and features on biopsy of demyelination and a mononuclear cellular infiltration. Cranial nerves VII, and occasionally II, IV and VI might be involved. CNS demyelination occurs in 3% of cases (Briani et al., 1996). There were CNS lesions, and oligoclonal bands in an African patient reported by Thomas et al., (1996), and differentiation from MS can be difficult. Another patient with CNS demyelination resembling MS was reported by Rodriguez-Castro et al., (2003). Of the 67 patients reported by Gorson et al., (1997), 7 had a pure motor syndrome and the same number a pure sensory syndrome. A mononeuritis multiplex was another presentation.
Most cases are not genetic, but sisters have been described. Onset was at 14 months when the clumsiness was noted. In the case presented by McCann et al., (1996) multiple cranial nerve involvement developed late in the disease, and the patient's mother was said to have had painless burns of her hands. There is also the case reported by van der Sluis et al., (1998), in which a man with known CMT1 developed chronic inflammatory polyneuropathy.
The proband in the AD family reported by Donaghy et al., (2000) had a steroid responsive Chronic Inflammatory Demyelinating Polyneuropathy. He, and other members of his family had a myelin protein zero (MPZ) mutation. In a study of 15 unrelated cases, (Plante-Bordeneuve et al., 2001), mutations were looked for in Po, PMP22 or Erg2. A molecular defect was found in 4. One was a homozygous point mutation in PMP22, one was a heterozygous duplication of the 17p11.2 segment (plus another with a PMP22 mutation) and one had a PO mutation.
See under 'IgM' for other demyelinating neuropathies.
The condition called 'chronic sensory demyelinating polyneuropathy' is probably the same as this condition, in that patients initially only have sensory involvement, but later develop a motor conduction block (Berger et al., 1995).
* This information is courtesy of the L M D.
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What gene changes cause Chronic Inflammatory Demyelinating Polyneuropathy?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Sporadic - In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Chronic Inflammatory Demyelinating Polyneuropathy?
The typical symptoms of the syndrome are:
How does someone get tested for Chronic Inflammatory Demyelinating Polyneuropathy?
The initial testing for Chronic Inflammatory Demyelinating Polyneuropathy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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