Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease

Lung

Volumn 185, Issue 1, 2007, Pages 1-7

  Aboussouan, Loutfi S ^a   Lewis, Richard A ^b   Shy, Michael E ^b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; Neuropathy; Pulmonary function tests; Restless legs syndrome; Sleep apnea; Vocal cord paralysis

Indexed keywords

CARBAMAZEPINE; GABAPENTIN;

ARM MOVEMENT; ASPIRATION; ASTHMA; BREATHING DISORDER; BREATHING MUSCLE; CENTRAL SLEEP APNEA SYNDROME; CLINICAL FEATURE; DEMYELINATION; DIAPHRAGM DISEASE; DISEASE ASSOCIATION; FORCED EXPIRATORY VOLUME; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERCAPNIA; INSULIN RESISTANCE; LARYNGEAL NERVE; LIMB MOVEMENT; LUNG FUNCTION TEST; MUSCLE INNERVATION; MUSCLE STRENGTH; MUSCLE WEAKNESS; NERVE CELL NECROSIS; NERVE CONDUCTION; NERVE FIBER; PERIPHERAL NEUROPATHY; PHARYNX DISEASE; PHRENIC NERVE; POLYNEUROPATHY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT PARAMETERS; RESTLESS LEGS SYNDROME; REVIEW; RISK FACTOR; SLEEP APNEA SYNDROME; SLEEP DISORDERED BREATHING; SPINE MALFORMATION; SPIROMETRY; THORAX DEFORMITY; VOCAL CORD DISORDER;

CHARCOT-MARIE-TOOTH DISEASE; DIAPHRAGM; HUMANS; MUSCLE WEAKNESS; PERIPHERAL NERVOUS SYSTEM DISEASES; PHRENIC NERVE; RESTLESS LEGS SYNDROME; SLEEP DISORDERS; VOCAL CORD PARALYSIS;

EID: 33847149997     PISSN: 03412040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00408-006-0053-9     Document Type: Review

References (46)

1. A Consensus Conference Report (1999) Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation. Chest 116:521-534
2. Akiba Y, Kimura T, Kitaoka T, et al. (1996) [Respiratory disorders in type-1 hereditary motor and sensory neuropathy]. Nihon Kyobu Shikkan Gakkai Zasshi 34:850-855
3. Anand N, Levine DB, Burke S, Bansal M (1997) Neuropathic spinal arthropathy in Charcot-Marie-Tooth disease. A case report. J Bone Joint Surg Am 79:1235-1239
4. Aviv JE, Kaplan ST, Thomson JE, et al. (2000) The safety of flexible endoscopic evaluation of swallowing with sensory testing (FEESST): an analysis of 500 consecutive evaluations. Dysphagia 15:39-44
5. Bach JR (1994) Update and perspective on noninvasive respiratory muscle aids. Part 2: The expiratory aids. Chest 105:1538-1544
6. Busiguina S, Fernandez AM, Barrios V, et al. (2000) Neurodegeneration is associated to changes in serum insulin-like growth factors. Neurobiol Dis 7:657-665
7. Carter GT, Kilmer DD, Bonekat HW, Lieberman JS, Fowler WM Jr (1992) Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I. Muscle Nerve 15:459-462
8. Carvalho AA, Vital A, Ferrer X, et al. (2005) Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. J Peripher Nerv Syst 10:85-92
9. Celik M, Forta H, Parman Y, et al. (2001) Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus. Diabet Med 18:685-686
10. Chan CK, Mohsenin V, Loke J, et al. (1987) Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest 91:567-570
11. Cruz-Martinez A, Armijo A, Fermoso A, et al. (2000) Phrenic nerve conduction study in demyelinating neuropathies and open-heart surgery. Clin Neurophysiol 111:821-825
12. Dematteis M, Pepin JL, Jeanmart M, et al. (2001) Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet 357:267-272
13. Dray TG, Robinson LR, Hillel AD (1999) Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II. Arch Neurol 56:863-865
14. Dyck PJ, Low PA, Stevens JC (1983) "Burning feet" as the only manifestation of dominantly inherited sensory neuropathy. Mayo Clin Proc 58:426-429
15. Dyck PJ, Litchy WJ, Minnerath S, et al. (1994) Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 35:608-615
16. Eichacker PQ, Spiro A, Sherman M, et al. (1988) Respiratory muscle dysfunction in hereditary motor sensory neuropathy, type I. Arch Intern Med 148:1739-1740
17. Entezari-Taher M, Singleton JR, Jones CR, et al. (1999) Changes in excitability of motor cortical circuitry in primary restless legs syndrome. Neurology 53:1201-1205
18. Gabreels-Festen A, van Beersum S, Eshuis L, et al. (1999) Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 66:569-574
19. Gemignani F, Marbini A, Di Giovanni G, Salih S, Terzano MG (1999) Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology 52:1064-1066
20. Gilchrist D, Chan CK, Deck JH (1989) Phrenic involvement in Charcot-Marie-Tooth disease. A pathologic documentation. Chest 96:1197-1199
21. Hardie R, Harding AE, Hirsch N, et al. (1990) Diaphragmatic weakness in hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 53:348-350
22. Hensinger RN, MacEwen GD (1976) Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease. J Bone Joint Surg Am 58:13-24
23. Hill NS (2000) Management of noninvasive ventilation. In: Hill NS (ed) Long-term mechanical ventilation. Marcel Dekker, Inc., New york, pp 253-303
24. Iannaccone S, Zucconi M, Marchettini P, et al. (1995) Evidence of peripheral axonal neuropathy in primary restless legs syndrome. Mov Disord 10:2-9
25. Lacy PD, Hartley BE, Rutter MJ, Cotton RT (2001) Familial bilateral vocal cord paralysis and Charcot-Marie-tooth disease type II-C. Arch Otolaryngol Head Neck Surg 127:322-324
26. Lewis RA, Sumner AJ, Shy ME (2000) Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle Nerve 23:1472-1487
27. Mersiyanova IV, Ismailov SM, Polyakov AV, et al. (2000) Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 15:340-347
28. Nathanson BN, Yu DG, Chan CK (1989) Respiratory muscle weakness in Charcot-Marie-Tooth disease. A field study. Arch Intern Med 149:1389-1391
29. Ondo W, Jankovic J (1996) Restless legs syndrome: clinicoetiologic correlates. Neurology 47:1435-1441
30. Osanai S, Akiba Y, Nakano H, et al. (1992) Charcot-Marie-Tooth disease with diaphragmatic weakness. Intern Med 31:1267-1270
31. Ota T, Osawa K (2003) Marked improvement of glycaemic control with pioglitazone in a Type 2 diabetic patient associated with Charcot-Marie-Tooth disease. Diabet Med 20:420-421
32. Phillips MF, Steer HM, Soldan JR, Wiles CM, Harper PS (1999) Daytime somnolence in myotonic dystrophy. J Neurol 246:275-282
33. Pogson D, Johnston S (2001) Anaesthesia and sleep apnoea. Br J Anaesth 87:153
34. Polydefkis M, Allen RP, Hauer P, et al. (2000) Subclinical sensory neuropathy in late-onset restless legs syndrome. Neurology 55:1115-1121
35. Ries AL (1989) Measurement of lung volumes. Clin Chest Med 10:177-186
36. Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ (1998) Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry 64:510-515
37. Sagliocco L, Orlandi G, Calabrese R, et al. (2003) Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A. Am J Phys Med Rehabil 82:754-759
38. Santoro L, Manganelli F, Di Maio L, et al. (2002) Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord 12:399-404
39. Shy ME (2004) Charcot-Marie-Tooth disease: an update. Curr Opin Neurol 17:579-585
40. Stojkovic T, Latour P, Viet G, et al. (2004) Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. Neuromuscul Disord 14:261-264
41. Sulica L, Blitzer A, Lovelace RE, Kaufmann P (2001) Vocal fold paresis of Charcot-Marie-Tooth disease. Ann Otol Rhinol Laryngol 110:1072-1076
42. Takakura Y, Furuya H, Yamashita K, et al. (2002) [A case of Charcot-Marie-Tooth disease (CMT) type 1 complicated by diabetes mellitus (DM) showing bilateral phrenic nerve palsy]. Rinsho Shinkeigaku 42:320-322
43. Thomas PK, King RH, Bradley JL (1997) Hypertrophic neuropathy: atypical appearances resulting from the combination of type I hereditary motor and sensory neuropathy and diabetes mellitus. Neuropathol Appl Neurobiol 23:348-351
44. Tusiewicz K, Moldofsky H, Bryan AC, Bryan MH (1977) Mechanics of the rib cage and diaphragm during sleep. J Appl Physiol 43:600-602
45. Walker JL, Nelson KR, Stevens DB, Lubicky JP, Ogden JA, VandenBrink KD (1994) Spinal deformity in Charcot-Marie-Tooth disease. Spine 19:1044-1047
46. Zuchner S, De Jonghe P, Jordanova A, et al. (2006) Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 59:276-281