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Charcot-Marie-Tooth Disease Type 2S

Axonal Charcot Marie Tooth Disease Type 2S


Presentation

  • Proximal leg muscle weakness was present in 13%. Asymmetrical features were present in 15%. Normal or brisk knee reflexes were present in 36%. Extensor plantar responses without associated spasticity occurred in 10 patients from eight families.[neurology.org]
  • Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs.[cmtausa.org]
  • Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present.[emedicine.medscape.com]
  • Indeed, these were the only abnormalities shown by patient III.1, presently 30 years old.[jnnp.bmj.com]
  • CMT1A usually presents with a typical CMT phenotype (clinical presentation). Patients are slow runners in childhood, develop high arches, hammertoes and often require orthotics (braces) for ankle support.[cmt.org.uk]
Weakness
  • They may have greater atrophy and distal leg weakness with relatively less hand weakness. Nerve hypertrophy is absent but is variable in CMT1 as well.[emedicine.medscape.com]
  • Symptoms Hand weakness can be a symptom of CMT. Symptoms often appear in adolescence or early adulthood.[medicalnewstoday.com]
  • It causes muscle weakness, decreased muscle mass (also known as atrophy) in the lower leg and/or hand and loss of sensation in the lower limbs.[gillettechildrens.org]
  • The deformity of CMT is a direct result of weakness of the intrinsic muscles of the foot.[paleyinstitute.org]
  • Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs.[cmtausa.org]
Falling
  • As the disease progresses, people may be sprain their ankles a lot, trip and fall a lot and appear clumsy, and they may have a high arch to the bottom of their feet, or toes that bend upward at the middle joint (hammertoes).[thinkgenetic.com]
  • Frequent tripping or falling. Foot deformities, such as high arches or hammertoes. Mild hearing loss in more severe forms of CMT.[gillettechildrens.org]
  • I was constantly spraining my ankles and bandaging my knees from falling so much. Finally, the CMT diagnosis explained it.[themighty.com]
  • A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls.[mydr.com.au]
  • […] do things like open screw-top jars or turn taps high foot arches (this is known as ‘pes cavus’) and clawed toes high-stepping gait and ‘slapping’ of the feet on the floor while walking muscle wasting in the legs and arms poor balance and occasional falls[betterhealth.vic.gov.au]
Progressive Polyneuropathy
  • The second most frequent presentation in 2 series was a largely symmetric slowly progressive polyneuropathy, causing a misdiagnosis of CMT in the narrow sense. With this subtype, high arches and hammertoes are common. Scoliosis is rarely observed.[emedicine.medscape.com]
Pathologist
  • PMID: 22285450 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Progressive Dementia
  • General paresis can leads to progressive dementia with symptoms of personality change and poor memory.Common abnormal neurologic findings include facial and limb hypotonia, dysarthria, and intention tremor.[explainmedicine.com]
Respiratory Distress
  • distress (sequence analysis of IGHMBP2 gene) Charcot-Marie-Tooth disease (disease exome based NGS panel for 43 genes) Spinal muscular atrophy (NGS panel for 21 genes)[cgcgenetics.com]
  • Distress 1 Spinal Muscular Atrophy, Diaphragmatic DSMA1 DHMN6 HMN VI HMN6 SIANRF SMARDI 604320 Genetic Test Registry[ukgtn.nhs.uk]
  • IGHMBP2 gene mutations can present with two different phenotypes: 1) the severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) the milder CMT2S. Both are rare and recessive in nature.[cmtausa.org]
Muscular Atrophy
  • atrophy with respiratory distress (sequence analysis of IGHMBP2 gene) Charcot-Marie-Tooth disease (disease exome based NGS panel for 43 genes) Spinal muscular atrophy (NGS panel for 21 genes)[cgcgenetics.com]
  • , Distal Hereditary Motor, Type VA Neuronopathy, Distal Hereditary Motor, Type V Neuropathy, Distal Hereditary Motor, Type V Spinal Muscular Atrophy, Distal, Type V Spinal Muscular Atrophy, Distal, With Upper Limb Predominance HMN5 DHMN V DHMN5 DSMAV[ukgtn.nhs.uk]
  • atrophy; Charcot-Marie-Tooth disease, Neuropathic muscular atrophy Charcot-Marie-Tooth Disease Etiology / Epidemiology / Natural History most common Hereditary motor-sensory neuropathy (HMSN): Most-common inherited demyelinating neuropathy life expectancy[eorif.com]
  • It is also known as peroneal muscular atrophy and hereditary motor sensory neuropathy. The cause of CMT has been linked to genetics.[paleyinstitute.org]
Peripheral Neuropathy
  • Alcoholism A cause of acquired peripheral neuropathy.[1].[explainmedicine.com]
  • Peripheral Neuropathy. 3 Ed Philadelphia: W.B. Saunders Company 1993 pp 1094–1136 2 De Jonghe P, Timmerman V, Nelis E. Hereditary Peripheral Neuropathies. In: Deymeer F (ed).[nature.com]
  • Setting Molecular genetics laboratory of a university hospital and the Limoges National Referral Center for Rare Peripheral Neuropathies.[jamanetwork.com]
  • [from Gene Reviews, 2015.12.15] Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies.[flybase.org]
  • Also, contrary to popular understanding, inherited neuropathies account for a substantial number of chronic peripheral neuropathies.[link.springer.com]
Areflexia
  • Pain is rarely an initial symptom but most patients experience pain during the course of their disease. [ 6 ] Generalised tendon areflexia. There may be foot drop and foot deformity.[patient.info]
  • In one study, ankle jerks were absent in 37.5%, and areflexia occurred in 12.5%.[emedicine.medscape.com]
  • Physical examinations at age 5 revealed a mild atrophy and weakness of the intrinsic muscles of the feet (score 2/5), impaired dorsiflexion of the feet (score 2 3/5), generalized areflexia, and mildly diminished sensation of all modalities in regions[journals.plos.org]
Hyporeflexia
  • On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms.[emedicine.medscape.com]
  • Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities.[pediatrics.aappublications.org]
  • The proband's two younger sisters (II:3 and II:6) and niece (III:3) denied to have any neurological symptoms; however, neurological examinations uncovered mild atrophy, weakness in the intrinsic foot muscles (score 4 /5) and generalized hyporeflexia in[journals.plos.org]
Spastic Gait
  • gait). [13] Linkage studies excluded Charcot-Marie-Tooth disease type 2A (CMT2A), Charcot-Marie-Tooth disease type 2B (CMT2B), Charcot-Marie-Tooth disease type 2D (CMT2D), Charcot-Marie-Tooth disease type 2E (CMT2E), CMT2, amyotrophic lateral sclerosis[emedicine.medscape.com]

Treatment

  • […] in CMT1A Trial (AATIC)Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1ACharcot-Marie-Tooth Disease;Hereditary Motor and Sensory NeuropathiesDrug: Placebo;Drug: ascorbic acidAcademisch Medisch Centrum - Universiteit van Amsterdam[ddrare.nibiohn.go.jp]
  • It also provides treatment algorithms and treatment guidelines for Charcot Marie Tooth (CMT) in the US, Europe, and Japan.[gii.co.jp]
  • Treatment for CMT There is no cure for CMT, but treatment can help manage some of the symptoms.[betterhealth.vic.gov.au]
  • From there, we offer the newest treatment options, informed by innovative research conducted right here at the Icahn School of Medicine at Mount Sinai .[mountsinai.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Management and prognosis are reviewed separately. (See "Charcot-Marie-Tooth disease: Management and prognosis" .)[uptodate.com]
  • […] disease, demyelinating, type 1A Symptoms - Charcot-Marie-Tooth disease- Type 1A Causes - Charcot-Marie-Tooth disease- Type 1A Prevention - Charcot-Marie-Tooth disease- Type 1A There is no known prevention Diagnosis - Charcot-Marie-Tooth disease- Type 1A Prognosis[checkorphan.org]
  • Treatment and prognosis Unfortunately no effective drug for CMT exists. Treatment is largely supportive with rehabilitation therapy and surgery for skeletal deformities 5.[radiopaedia.org]
  • The wide range of disease severity and the overlapping of many signs can make pedigree construction and the determination of recurrence risks and prognosis challenging. The only recourse may be genotyping.[disorders.eyes.arizona.edu]

Etiology

  • Understanding the etiology of the cavus foot, as well as the severity and rate of progression, is critical in determining the most effective surgical technique.[podiatrytoday.com]
  • […] sensory neuropathy Charcot-Marie-Tooth Disease ICD-10 G60.0 : Hereditary motor and sensory neuropathy Charcot-Marie-Tooth Disease ICD-9 356.1 Peroneal muscular atrophy; Charcot-Marie-Tooth disease, Neuropathic muscular atrophy Charcot-Marie-Tooth Disease Etiology[eorif.com]
  • Succinylcholine-induced hyperkalemia in acquired pathologic states: etiologic factors and molecular mechanisms. Anesthesiology 2006;104:158-69. [PubMed] [Free Full Text] Mills P.[apicareonline.com]

Epidemiology

  • Discussion Although there is a growing interest in CMT research, epidemiological studies of this disease are still scarce, and knowledge of CMT epidemiology in different parts of the world remains extremely limited.[karger.com]
  • Epidemiology and Patient Population 4.1. Key Findings 5. 7MM Total Prevalent Population of Charcot Marie Tooth 6. Country Wise-Epidemiology of Charcot Marie Tooth 6.1. United States 6.1.1.[gii.co.jp]
  • Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol. Scand., Suppl.c. 2012; :iv-22. doi: 10.1111/ane.12013. PMID: 23106488 DiVincenzo, C, et al.[invitae.com]
  • Epidemiology In the United States, CMT affects approximately 125,000 people, which is about 1 per 2,500 people. The majority of those affected – about 70% - have CMT1 and the second most common type is CMTX.[news-medical.net]
  • […] neuropathy Charcot-Marie-Tooth Disease ICD-10 G60.0 : Hereditary motor and sensory neuropathy Charcot-Marie-Tooth Disease ICD-9 356.1 Peroneal muscular atrophy; Charcot-Marie-Tooth disease, Neuropathic muscular atrophy Charcot-Marie-Tooth Disease Etiology / Epidemiology[eorif.com]
Sex distribution
Age distribution

Pathophysiology

  • In this review, we will describe the physiological role of Mfn2, the pathophysiology of CMT2A and current hypotheses about the deleterious role of mutant Mfn2 in neuronal function.[archive-ouverte.unige.ch]
  • The identification of disease-associated genes has helped categorize the pathophysiological bases of CMT, such as structural proteins of myelin (type 1) and the axonal cytoskeleton, axonal transport, and mitochondrial dysfunction (type 2), but many forms[jax.org]
  • Pathophysiology 3.7. Diagnosis 4. Epidemiology and Patient Population 4.1. Key Findings 5. 7MM Total Prevalent Population of Charcot Marie Tooth 6. Country Wise-Epidemiology of Charcot Marie Tooth 6.1. United States 6.1.1.[gii.co.jp]
  • This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Defects in this gene have also been associated with early-onset stroke.[flipper.diff.org]
  • An excellent recent review of the genetics of Charcot-Marie-Tooth syndrome and its pathophysiology. Google Scholar 2. Skre H: Genetic and clinical aspects of Charcot-Marie-Tooth’s disease . Clin Genet 1974, 6 :98–118.[link.springer.com]

Prevention

  • CMT1A, Type Ia Charcot Marie Tooth, Type Ia CMT, Hereditary motor and sensory neuropathy 1A, HMSN1A, Charcot-Marie-Tooth disease, demyelinating, type 1A Symptoms - Charcot-Marie-Tooth disease- Type 1A Causes - Charcot-Marie-Tooth disease- Type 1A Prevention[checkorphan.org]
  • You may also be given orthopedic devices, such as braces and splints, to prevent injuries due to weak legs and to increase your stability.[healthline.com]
  • If such tethering could be restored, it could prevent or delay the loss of motor neurons that gradually paralyzes many patients with this genetic disorder.[sciencedaily.com]
  • Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals.[medicinenet.com]
  • In some cases, surgery may be needed to correct deformation of the feet that prevent an individual from walking and moving independently. Pharmacotherapy may also be indicated to manage nociceptive or neuropathic pain.[news-medical.net]

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