Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary neuropathies are classified into HMSN/Charcot-Marie-Tooth disease (CMT), familial amyloid polyneuropathy (FAP), hereditary motor neuropathies (HMN) and hereditary sensory (and autonomic) neuropathies (HSAN). The clinical features of HMSN are generally characterized as distal dominant motor and sensory involvements. However, we have reported a novel HMSN with proximal dominancy (HMSN-P) originated in Okinawa and Shiga prefectures, Japan. The gene locus is located in the centromere region of chromosome 3. In 2008, a new family with the HMSN-P was reported from Brazilians of Japanese ancestry. This Brazilian family was initially diagnosed as having "a familial ALS". The HMSN-P linked to ch.3 is not limited in Japan, but may be present in the worldwide. The overseas scientific research for the elucidation of the mechanism of HMSN-P supported by JSPS KAKENHI (21406026) is planning. Recently several other types of HMSN-P have been reported; HMSN-P with urinary disturbance and paroxysmal dry cough, a patient with both CMT 1A and mild spinal muscular atrophy and CMT1A with severe paresis of the proximal lower limb muscles. Therefore the clinical concept of HMSN is not limited as the disease with distal dominant motor sensory involvement. HMSN has the wider spectrum from distal to proximal and motor/sensory to autonomic neuropathies.
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PMID:[Wide spectrum of hereditary motor sensory neuropathy (HMSN)]. 2003 Feb 57

Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical cord schwannoma in a male individual with confirmed CMT4B1 disease. Sequencing of the MTMR2 gene revealed a novel nonsense homozygous mutation c.1768C>T (p.Gln590*). The mutation was identified in affected relatives of the proband and a second, apparently unrelated, family. The rare association of optic neuritis or schwannoma with genetically confirmed CMT1A has been individually observed, but never with recessive CMT. To the best of our knowledge, the occurrence of optic neuritis and cervical cord schwannoma in the same patient has never been reported with any form of CMT including CMT4B1. In similar cases, we recommend immediate medical attention to rule out the possibility of schwannomas in patients with all demyelinating CMT subtypes in case of the development of focal neurological signs or acute worsening of clinical status.
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PMID:Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease. 2716 95