Symptoma

Distal Spinal Muscular Atrophy

DSMA

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

  • Walking with a Cane

    […] with a cane; 5, walking with crutches; 6, walking with a walker; 7, wheelchair bound; and 8, bedridden. [nature.com]

  • Death in Infancy

    While some SMAs lead to death in infancy, other types can present with mild weakness in an otherwise healthy adult. Based on the type of muscles affected, spinal muscular atrophies can be divided into proximal and distal SMAs. [blueprintgenetics.com]

  • Muscle Rigidity

    Neurological examination showed an asymmetric tetraparesis, with muscle atrophy, predominantly in the lower limbs, associated to profound global arreflexia, bradykinesia, muscle rigidity, with cogwheeling, rest tremor (right hand), postural instability [deepdyve.com]

  • Hand Muscle Weakness

    One family member demonstrated vocal cord palsy as the initial sign of disease; however, in the other family hand muscle weakness was the first major symptom. No affected patients demonstrated sensory loss or upper motor neuron involvements. [ncbi.nlm.nih.gov]

    In affected FC465 members, respiratory difficulty during exercise was the initial and predominant symptom; however, in affected FC654 members, hand muscle weakness was the first dominant symptom. [spandidos-publications.com]

  • Small Hand

    Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs. There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. [ncbi.nlm.nih.gov]

  • Impulsivity

    Maintaining proper axon diameter is essential for the efficient transmission of nerve impulses. The function of heat shock protein beta-8 is not well understood, but studies have shown that it interacts with heat shock protein beta-1. [ghr.nlm.nih.gov]

  • Hyperreflexia

    There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. Her 25year-old son had only stiffness of both legs at the age of 22. Physical examination revealed only generalized hyporeflexia. [ncbi.nlm.nih.gov]

  • Resting Tremor

    Neurological examination showed an asymmetric tetraparesis, with muscle atrophy, predominantly in the lower limbs, associated to profound global arreflexia, bradykinesia, muscle rigidity, with cogwheeling, rest tremor (right hand), postural instability [deepdyve.com]

  • Postural Instability

    Neurological examination showed an asymmetric tetraparesis, with muscle atrophy, predominantly in the lower limbs, associated to profound global arreflexia, bradykinesia, muscle rigidity, with cogwheeling, rest tremor (right hand), postural instability [deepdyve.com]

  • Gliosis

    Dementia, gliosis and expression of the small heat shock proteins HSP27 and alpha B-crystallin in Parkinsons' disease. Neuroreport 1999 ; 10 : 2273 - 2276 Sharp P, Krishnan M, Pullar O, Navarrete R, Wells D, de Belleroche J. [nature.com]

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]

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 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]

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

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

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]

demyelinating vs. axonal), by etiology, or by pattern of inheritance. Spastic Paraplegia, Hereditary A group of inherited diseases that share similar phenotypes but are genetically diverse. [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]

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]

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]

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: . Updated January 21, 2016. Accessed April 27, 2016. 14. Wijnhoven TMA, de Onis M, Onyango AE, et al; for the WHO Multicentre Growth Reference Study Group. [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]

Heat shock protein 27 interacts with vimentin and prevents insolubilization of vimentin subunits induced by cadmium. Exp Mol Med 2005 ; 37 : 427 - 435 May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ. [nature.com]