Symptoma

Charcot-Marie-Tooth Disease Type 2S

Axonal Charcot-Marie-Tooth Disease Type 2S

Acronym CMT2S Synonyms Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S Charcot-Marie-Tooth neuropathy, type 2S Charcot-Marie-Tooth neuropathy axonal type 2S Keywords Any medical or genetic information present in this entry is provided [uniprot.org]

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]

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]

  • 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]

  • 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]

  • 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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment for CMT There is no cure for CMT, but treatment can help manage some of the symptoms. [betterhealth.vic.gov.au]

We are beginning to explore such a genetic approach as a possible treatment for CMT2D, a dominant axonal neuropathy (type 2) caused by mutations in GARS. [jax.org]

[…] 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]

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]

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]

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]

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]

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]

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]

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]

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]