Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]

We initially suspected vertebrobasilar stroke presenting as right bulbo-pontine syndrome. [elsevier.es]

Acronym CMT4A Synonyms Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A Charcot-Marie-Tooth disease neuropathy type 4A Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

EMG (electromyography) of the lower extremities showed normal insertional activity in all explored muscles; abnormal spontaneous activity was present in right rectus femoris; increased amplitude and reduced recruitment were present in left anterior tibialis [scielo.org.co]

Case Summary Our patient, a woman of Asian Indian descent aged 50 years, presented for a neuromuscular evaluation with complaints of imbalance. [karger.com]

• Peripheral Neuropathy

  GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. [ncbi.nlm.nih.gov]

  Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5). Am. J. Hum. [mda.org]

  Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy, 4th edition. Philadelphia: Elsevier Saunders 2005, p.1623-58. [periodicos.unifesp.br]

  Charcot Marie Tooth 1 (HMSN type I according to Dyck’s classification), comprises the group of demyelinating peripheral neuropathies and CMT2 (HMSN type II) comprises the axonal peripheral neuropathies3. [scielo.org.co]

• Hyporeflexia

  Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

• Areflexia

  Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction. [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]

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]

Natural history and treatment of peripheral inherited neuropathies. Adv Exp Med Biol. 2009b;652:207–24. [ncbi.nlm.nih.gov]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [charcot-marie-toothnews.com]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [euro-libris.ro]

PMID: 14561495 Prognosis Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A Acta Biochim Pol 2014;61(4):739-44. [ncbi.nlm.nih.gov]

Here we make a review of literature, describing the features of the GDAP1 gene, especially the Q163X mutation, and its implications in the development, diagnosis and prognosis of CMT4A. [scielo.org.co]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology 2002;21:246-50. http://dx.doi.org/10.1159/000065643 Charcot JM. [periodicos.unifesp.br]

Supporting Materials: Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code Time Frame: For Observational/Longitudinal/Natural History/Epidemiology studies): For the current grant cycle, available [clinicaltrials.gov]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [ghr.nlm.nih.gov]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology (2016). doi:10.1159/000443706 Reilly, M. M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! [mda.org]

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol. 2011; 227(1): 31-41. [ Links ] 13. Zimon M, Baets J, Fabrizi GM, Jaakkola E. [scielo.org.co]

We prescribed 100 mg acetylsalicylic acid and 80 mg atorvastatin for secondary prevention of ischaemic stroke. [elsevier.es]

Mutations in EGR2 result in an abnormal protein that is unable to bind to the DNA, preventing the expression of genes involved in myelin production. This results in loss of myelin and impaired nerve signal transmission. [charcot-marie-toothnews.com]