Abstract Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. [ncbi.nlm.nih.gov]

Results Clinical manifestations The clinical presentations of the two families reported in the present study and the previously reported American family ( 5 ) are summarized in Table I. [spandidos-publications.com]

• Weakness

  PATIENTS AND METHODS: A 55-year-old woman presented with weakness of both hands at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in her legs. [ncbi.nlm.nih.gov]

• Fever

  After an incubation period of several days, a nonspecific flulike illness develops, often with fever, headache, and joint and muscle pain. [clinicalgate.com]

  Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type IV Clinically: Congenital insensitivity to pain Anhidrosis Recurrent fever Self mutilating behaviour Mild MR Loss of C axons Electrophysiology: [slideshare.net]

  […] neuropathic spondylopathy in syringomyelia ( G95.0 ) neuropathic spondylopathy in tabes dorsalis ( A52.11 ) nonsyphilitic neuropathic spondylopathy NEC ( G98.0 ) spondylitis in syphilis (acquired) ( A52.77 ) tuberculous spondylitis ( A18.01 ) typhoid fever [icd10data.com]

• Dysphagia

  In the two families described in the present study, no bulbar symptoms, including dysphagia, dysarthria and facial muscle weakness, were identified in affected members. [spandidos-publications.com]

  Dysarthria and dysphagia are associated with atrophy and weakness of facial, jaw, and glossal muscles. Because of the prominent bulbar involvement, Kennedy’s disease can be difficult to differentiate from the bulbar variant of ALS. [clinicalgate.com]

• Fracture

  Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. [ojrd.biomedcentral.com]

• Polyneuropathy

  Polyneuropathies Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. [bioportfolio.com]

  ICD-10-CM Codes › G00-G99 Diseases of the nervous system › G60-G65 Polyneuropathies and other disorders of the peripheral nervous system › G60- Hereditary and idiopathic neuropathy › Hereditary motor and sensory neuropathy 2016 2017 2018 2019 Billable [icd10data.com]

  […] info Genes Genetic variants HEXA Chain144 Alpers Syndrome Chain145 Alpers-like Hepatocerebral Syndrome Chain146 Alpha-B Crystallinopathy with Cataract Chain151 Alzheimer disease (Analysis A) Chain153 Amish Infantile Epilepsy Syndrome Chain154 Amyloid Polyneuropathy [sequencing.com]

  Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 1968 Jun. 18(6):603-18. [Medline]. Thomas PK, Calne DB. [emedicine.medscape.com]

  There is an AAN practice parameter for distal symmetric polyneuropathy indicating class A evidence for genetic testing in HMSN 3 ; other sources recommend various diagnostic testing strategies. [now.aapmr.org]

• Neuralgia

  […] symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified ( R00 - R94 ) Diseases of the nervous system G60-G65 2019 ICD-10-CM Range G60-G65 Polyneuropathies and other disorders of the peripheral nervous system Type 1 Excludes neuralgia [icd10data.com]

Treatment varies based on a case-by-case basis. If you or a family member has been diagnosed with Jerash type distal hereditary motor neuropathy, talk with your doctor about the most current treatment options. [diseaseinfosearch.org]

The proteasomal inhibitor treatment increased the intracellular amount of σ1R(31_50del) and led to the formation of nuclear aggregates. Stable expressing σ1R(31_50del) induced endoplasmic reticulum stress and enhanced apoptosis. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment with: -plasma exchange within 2 months of randomization. [clinicaltrials.jp]

Physical therapy is the predominant treatment of symptoms. [ipfs.io]

Consequently, the correct diagnosis is important both for prognosis and for its value in genetic counseling. [clinicalgate.com]

Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life. [ojrd.biomedcentral.com]

A specific genetic diagnosis can provide patients and their relatives with information about prognosis and recurrence risk and may be relevant to future gene-specific therapies ( 17, 22 ). [tidsskriftet.no]

[…] various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology [bioportfolio.com]

結節性硬化症 Tuberous sclerosis complex （TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]

Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation. [now.aapmr.org]

The etiology of PPS is not completely known, but it is most likely related to the normal aging process (i.e., most individuals lose some motor neurons after age 55 years) superimposed on chronically denervated muscles. [clinicalgate.com]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

CONCLUSION: Since next-generation sequencing will not be easily accessible, epidemiological data and clinical "phenotyping" remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients. [ncbi.nlm.nih.gov]

CONCLUSION Since next-generation sequencing will not be easily accessible, epidemiological data and clinical "phenotyping" remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients. [unboundmedicine.com]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016. 46 (3):157-65. [Medline]. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. [emedicine.medscape.com]

Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available. [ojrd.biomedcentral.com]

Epidemiology including risk factors and primary prevention HMSN is the most common inherited neuromuscular disease with overall prevalence of approximately 1/2500 and incidence 15/100,000 in the general population. [now.aapmr.org]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

Pathophysiology CMT1A The extra PMP22 gene copy within the 1.5 mB duplication on chromosome 17 is believed to cause most cases. [12] PMP22 is a 160 amino acid integral membrane protein that is expressed at high levels in myelinating Schwann cells, localizing [emedicine.medscape.com]

Indeed, in vitro, both mutations reduce cell viability, the formation of abnormal protein aggregates preventing the correct targeting of sigma-1R protein to the mitochondria-associated ER membrane (MAM) and thus impinging on the global Ca 2+ signalling [ncbi.nlm.nih.gov]

Centers for Disease Control and Prevention. Developmental milestones. Available at: http://www.cdc.gov/ncbddd/actearly/milestones/. Updated January 21, 2016. Accessed April 27, 2016. 14. [care.togetherinsma.fr]

The NCARDRS helps scientists look for better ways to prevent and treat CMT. You can opt out of the register at any time. Page last reviewed: 18/02/2019 Next review due: 18/02/2022 [nhs.uk]

Primary prevention is genetic counseling. [now.aapmr.org]

Genetic counselling is an important tool for preventing new cases if this is wished by at-risk family members. [ojrd.biomedcentral.com]