| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwo. Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report. Journal of medical case reports. vol 18. issue 1. 2024-11-28. PMID:39604983. |
charcot-marie-tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. |
2024-11-28 |
2024-11-30 |
Not clear |
| Isabella Di Sarno, Stefano Tozza, Filippo Maria Santorelli, Emanuele Cassano, Gemma Natale, Raffaele Dubbioso, Lucia Ruggiero, Alessandra Tessa, Rosa Iodice, Maria Nolano, Fiore Manganell. Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-09-02. PMID:39223423. |
charcot-marie-tooth (cmt) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. |
2024-09-02 |
2024-09-05 |
Not clear |
| Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusc. A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature. Children (Basel, Switzerland). vol 10. issue 5. 2023-05-27. PMID:37238449. |
the onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformity (pes cavus) and areflexia. |
2023-05-27 |
2023-08-14 |
Not clear |
| Marianna Traugott, Wolfgang Hoepler, Reinhard Kitzberger, Sophie Pavlata, Tamara Seitz, Sebastian Baumgartner, Gudrun Placher-Sorko, Daniela Pirker-Krassnig, Urs Ehehalt, Andreas Grasnek, Michaela Beham-Kacerovsky, Emanuela Friese, Christoph Wenisch, Stephanie Neuhol. Successful treatment of intubation-induced severe neurogenic post-extubation dysphagia using pharyngeal electrical stimulation in a COVID-19 survivor: a case report. Journal of medical case reports. vol 15. issue 1. 2021-03-29. PMID:33752743. |
we report the case of a patient with severe neurogenic post-extubation dysphagia (ped) due to prolonged intubation and severe general muscle weakness related to covid-19, which was successfully treated using pes. |
2021-03-29 |
2023-08-13 |
Not clear |
| Simona Saredi, Sara Gibertini, Leslie Matalonga, Laura Farina, Anna Ardissone, Isabella Moroni, Marina Mor. Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. Neuromuscular disorders : NMD. vol 29. issue 5. 2020-05-12. PMID:31040037. |
clinical features in the female proband were characterized by muscle weakness involving neck and axial muscles, and pelvic girdle and distal lower limb muscles, reduced tendon reflexes and pes cavus. |
2020-05-12 |
2023-08-13 |
Not clear |
| Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, Hiroshi Takashim. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C. Pediatrics international : official journal of the Japan Pediatric Society. vol 58. issue 11. 2017-03-30. PMID:27882734. |
the patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. |
2017-03-30 |
2023-08-13 |
Not clear |
| Ye Xu, Jia-ying Zhang, Bo-yu Yang, Zhi-hong He, Mu-chen Zhang, Zhen Yu, Ming-min G. [Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)]. Yi chuan = Hereditas. vol 37. issue 6. 2015-09-30. PMID:26351045. |
the autosomal recessive form (ar-cmt1 or cmt4) is accompanied by progressive distal muscle weakness and atrophy of the limbs, pes cavus and claw-like hands. |
2015-09-30 |
2023-08-13 |
mouse |
| Yeşim Parman, Esra Battaloğl. Recessively transmitted predominantly motor neuropathies. Handbook of clinical neurology. vol 115. 2014-04-01. PMID:23931818. |
distal muscle weakness and atrophy predominating in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss, and pes cavus are the main clinical features of this disorder with occasional cranial nerve involvement. |
2014-04-01 |
2023-08-12 |
human |
| Mari Auranen, Emil Ylikallio, Jussi Toppila, Mirja Somer, Sari Kiuru-Enari, Henna Tyynisma. Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. Neurogenetics. vol 14. issue 2. 2013-12-18. PMID:23456260. |
besides distal leg muscle weakness, most patients showed mild proximal weakness, often with asymmetry and pes cavus. |
2013-12-18 |
2023-08-12 |
Not clear |
| Masayuki Sugie, Kenji Ishihara, Yuki Simizu, Hideki Oono, Mituru Kawamur. [Case report of transient splenium abnormality in Charcot-Marie-Tooth disease]. Rinsho shinkeigaku = Clinical neurology. vol 48. issue 5. 2008-07-29. PMID:18540386. |
neurological examination showed muscle weakness and atrophy in the distal extremities with pes cavus, mild sensory disturbance of four extremities and generalized decreased reflexes. |
2008-07-29 |
2023-08-12 |
Not clear |
| Hirofumi Ochi, Hiroyuki Murai, Manabu Osoegawa, Motozumi Minohara, Shoichi Inaba, Jun-ichi Kir. Juvenile muscular atrophy of distal upper extremity associated with airway allergy: two cases successfully treated by plasma exchange. Journal of the neurological sciences. vol 206. issue 1. 2003-03-31. PMID:12480093. |
soon after the pes, both showed improvement of distal muscle weakness of the upper extremities and marked reduction of contraction fasciculation of the forearm muscles. |
2003-03-31 |
2023-08-12 |
Not clear |
| O Dubourg, S Tardieu, N Birouk, R Gouider, J M Léger, T Maisonobe, A Brice, P Bouche, E LeGuer. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain : a journal of neurology. vol 124. issue Pt 10. 2001-11-01. PMID:11571214. |
males were more severely affected than females, with significantly more frequent muscle weakness, amyotrophy, proprioception loss, upper limb areflexia and pes cavus. |
2001-11-01 |
2023-08-12 |
xenopus_laevis |
| Y Suzuki, I Nonaka, C Akiyama, Y Kuroiw. [Clinical and pathological studies on nemaline myopathy in adulthood]. Rinsho shinkeigaku = Clinical neurology. vol 38. issue 9. 1999-04-27. PMID:10078028. |
in the first group, 13 patients had muscle weakness and/or skeletal abnormalities, such as high-arched palate, pes cavus and scoliosis which are often accompanied with the congenital nemaline myopathy. |
1999-04-27 |
2023-08-12 |
Not clear |
| M Chávez, C Moreno, A Pérez, F García, J Sólis, A Cargone, M Astete, C Contard. [Allgrove syndrome (achalasia-alacrima-adrenal gland insufficiency): report of a case]. Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru. vol 16. issue 2. 1996-11-25. PMID:8924656. |
additional features included: hyperreflexia, pes cavus, muscle weakness, and nasal speech. |
1996-11-25 |
2023-08-12 |
Not clear |
| J M Priest, K H Fischbeck, N Nouri, B J Keat. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. vol 29. issue 2. 1996-08-07. PMID:8666389. |
the patients were severely affected within the first few years of life with distal weakness, muscle atrophy, sensory loss, areflexia, pes cavus, and hammer toes. |
1996-08-07 |
2023-08-12 |
Not clear |
| M Takemitsu, K Murayama, T Saga, N Michihiro, H Shiihara, M Kimizuka, I Nonak. Monomelic muscle atrophy. Neuromuscular disorders : NMD. vol 3. issue 4. 1994-02-01. PMID:8268728. |
they had pes equinovarus deformity and muscle weakness in the affected leg but no symptom in the other limbs. |
1994-02-01 |
2023-08-12 |
Not clear |
| F Héritier, C Perret, J W Fittin. Maximal sniff mouth pressure compared with maximal inspiratory pressure in acute respiratory failure. Chest. vol 100. issue 1. 1991-08-05. PMID:2060340. |
furthermore, sniff pes can be estimated noninvasively by the measurement of sniff pmo in normal subjects and in patients with respiratory muscle weakness. |
1991-08-05 |
2023-08-11 |
human |
| K Sumi, T Nagaura, Y Itagaki, K Inui, J Ab. [A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. Rinsho shinkeigaku = Clinical neurology. vol 29. issue 7. 1989-12-20. PMID:2553313. |
with oral administration of thiamine hydrochloride (1000 mg) and high fat diet (60-70%), muscle weakness improved, and lactate and pyruvate levels in the serum reduced to normal ranges, whereas the mental deterioration, muscle atrophy, pes cavus progressed very slowly. |
1989-12-20 |
2023-08-11 |
Not clear |
| N Koulouris, D A Mulvey, C M Laroche, E H Sawicka, M Green, J Moxha. The measurement of inspiratory muscle strength by sniff esophageal, nasopharyngeal, and mouth pressures. The American review of respiratory disease. vol 139. issue 3. 1989-04-13. PMID:2923363. |
we conclude that pnp and pmo predict pes during a maximal sniff in both normal subjects and in patients with inspiratory muscle weakness. |
1989-04-13 |
2023-08-11 |
human |
| N Koulouris, D A Mulvey, C M Laroche, E H Sawicka, M Green, J Moxha. The measurement of inspiratory muscle strength by sniff esophageal, nasopharyngeal, and mouth pressures. The American review of respiratory disease. vol 139. issue 3. 1989-04-13. PMID:2923363. |
we measured pes, pnp, and pmo simultaneously in 10 normal volunteers, and in 12 patients with inspiratory muscle weakness. |
1989-04-13 |
2023-08-11 |
human |