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]

• Infertility

  Although not universal, most patients have gynecomastia, and some have other endocrine abnormalities, including diabetes and infertility. [clinicalgate.com]

• Respiratory Distress

  These conditions include: Spinal muscular atrophy with respiratory distress (SMARD) —SMARD has similar symptoms to infant-onset spinal muscular atrophy, though it affects the upper spinal cord neurons instead of the lower motor neurons. [togetherinsma.com]

  The first and most noticeable symptom of SMARD is usually breathing difficulties ( respiratory distress). [smasupportuk.org.uk]

  distress type 1 (SMARD1) Infant onset, severe, with diaphragmatic failure DHMN7A 158580 SLC5A7 2q12.3 Autosomal dominant Spinal muscular atrophy with vocal cord paralysis; Harper–Young myopathy Infant onset with vocal cord paralysis DHMN7B 607641 DCTN1 [en.wikipedia.org]

  Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum. Mol. Genet. 2004; 13(18):2031-42. [invitae.com]

  distress XL 5 4 PLEKHG5 Spinal muscular atrophy, Charcot-Marie-Tooth disease AR 16 8 REEP1 Spastic paraplegia, Distal hereditary motor neuronopathy AD 16 60 SCO2 Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile [blueprintgenetics.com]

• Aspiration

  Swallowing or feeding may also become difficult, and children may lose the ability to swallow safely without choking or inhaling food into the lungs (aspiration). [togetherinsma.com]

  Despite prominent bulbar weakness and the corresponding risk of aspiration, longevity usually is not affected. Consequently, the correct diagnosis is important both for prognosis and for its value in genetic counseling. [clinicalgate.com]

  […] hypertension, profuse sweating &marked skin blotching due to defective autonomic control Defective lacrimation ,absence of tongue papillae Hypotonia delayed motor milestones, gait ataxia, stunted growth & scoliosis Potentially life threatening condition due to aspiration [slideshare.net]

• Hearing Impairment

  Associated symptoms: voice, respiratory, hearing or visual impairments, need for educational modifications. [now.aapmr.org]

• Dysarthria

  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]

  Hereditary Motor & Sensory Neuropathies XL Hereditary motor & sensory neuropathy (CMT) Xq13.1; CJB1 (Connexin 32) Clinically: Phenotypically similar to CMT 1 Males are more severely affected Affected females -- mild or asymptomatic Transient ataxia ,dysarthria [slideshare.net]

• Areflexia

  Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. [ncbi.nlm.nih.gov]

  Neurological examinations at age 49 revealed a pes cavus, generalized areflexia except for brisk knee jerks, bilateral flexor plantar responses, symmetrical weakness and atrophy of the muscles in distal extremities, and a steppage gait with mild spastic [journals.plos.org]

• Hand Tremor

  Some patients complain of exercise-induced muscle cramps and hand tremors several years before weakness develops. Proximal muscles are affected first, followed by bulbar involvement, which may become marked. [clinicalgate.com]

• Hyporeflexia

  Physical examination revealed only generalized hyporeflexia. [ncbi.nlm.nih.gov]

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]