Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
Corresponding Author
Dr. Peter James Dyck MD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Mayo Clinic, 200 First Street SW, Rochester, MN 55905Search for more papers by this authorWilliam J. Litchy MD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorSharon Minnerath BS
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorThomas D. Bird MD
Veterans Administration Medical Center, Seattle, WA
Search for more papers by this authorPhillip F. Chance MD
Division of Medical Genetics, University of Utah Medical Center, Salt Lake City, UT
Search for more papers by this authorDaniel J. Schaid PhD
Section of Biostatistics, Mayo Clinic and Mayo Foundation, Rochester, MN
Search for more papers by this authorArnold E. Aronson PhD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorCorresponding Author
Dr. Peter James Dyck MD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Mayo Clinic, 200 First Street SW, Rochester, MN 55905Search for more papers by this authorWilliam J. Litchy MD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorSharon Minnerath BS
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorThomas D. Bird MD
Veterans Administration Medical Center, Seattle, WA
Search for more papers by this authorPhillip F. Chance MD
Division of Medical Genetics, University of Utah Medical Center, Salt Lake City, UT
Search for more papers by this authorDaniel J. Schaid PhD
Section of Biostatistics, Mayo Clinic and Mayo Foundation, Rochester, MN
Search for more papers by this authorArnold E. Aronson PhD
Peripheral Neuropathy Research Center and Laboratories, Rochester, MN
Search for more papers by this authorAbstract
We describe two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood in severely affected persons. Life expectancy in severely affected patients is shortened because of respiratory failure. Because nerve conduction velocities are normal and it is an inherited axonal neuropathy, we classify the disorder as a variety of hereditary motor and sensory neuropathy type II (HMSN II) (HMSN IIc). The present report provides further evidence for heterogeneity among the hereditary motor and sensory neuropathy type II disorders. In one large pedigree with the type IIc disorder, no linkage to DNA markers known to map near the HMSN IA locus on chromosome 17p or the HMSN IB locus on chromosome 1q was demonstrated.
References
- 1 Dyck PJ, and Lambert EH. Lower motor and primary sensory neuron diseaes with peroneal muscular atrophy: I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968; 18: 603–618
- 2 Dyck, PJ, and Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968; 18: 619–625
- 3 Dyck PJ. Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy. Mayo Clin Proc 1966; 41: 742–774
- 4 Dyck PJ, Gomez MR. Segmental demyelination in Dejerine-Sottas disease: light, phase-contrast, and electron microscopic studies. Mayo Clin Proc 1968; 43: 280–296
- 5 Dyck PJ, Gutrecht JA, Bastron JA, et al. Histologic and teased fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc 1968; 43: 81–123
- 6 Dyck PJ, Lais AC. Electron microscopy of teased nerve fibers: method of permitting examination of repeating structures of same fiber. Brain Res 1970; 23: 418–424
- 7 Dyck PJ, Lambert EH, Sanders K, O'Brien PC. Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro. Mayo Clin Proc 1971; 46: 432–436
- 8 Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: PJ Dyck, PK Thomas, JW Griffin, et al, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993: 1094–1136
- 9 Tooth HH. The peroneal type of progressive muscular atrophy. London: Lewis, 1886
- 10
Schultze F.
Uber die verebbare neurale odor neurospinale Muskelatrophie.
Dtsch Z Nervenheilkd
1930;
112:
1
10.1007/BF01652671 Google Scholar
- 11 Charcot J-M, Marie P. Sur une forme particuliere d'atrophie musculaire progressive souvent familial debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886; 6: 97
- 12 Dejerine J, Sottas J. Sur la nevrite: interstitielle, hypertrophique et progressive de l'enfance. CR Soc Biol (Paris) 1893; 45: 63
- 13 Gombault A. Contribution a l'etude anatomique de la nevrite parenchymateuse subaigue et chronique—nevrite parenchy-mateuse subaigue et chronique-nevrite segmentaire peri-axile. Arch Neurol 1880; 1: 11
- 14 Lambert EH, Bastron JA, Mulder DW. Conduction velocity of motor fibers of peripheral nerves in peroneal muscular atroophy (Charcot-Marie-Tooth disease). Presented at the annual meeting of the Academy of Neurology, Philadelphia, April 19, 1958
- 15 Dyck PJ, Lambert EH, Mulder DW. Charcot-Marie Tooth disease: nerve conduction and clinical studies of a large kinship. Neurology 1963; 13: 1–11.
- 16 Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence of genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974; 37: 68
- 17 Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy type I and II. Brain 1980; 103: 259
- 18 Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219–232
- 19 Matsunami N, Smith B, Ballard L, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1992 1: 176–179
- 20 Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 1: 157–165
- 21 Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet 1992; 1: 171–175
- 22 Valentijn LJ, Baas F, Wolterman RA, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 1: 166–170
- 23 Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 2: 288–291
- 24 Othmane KB, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT 2A) for autosomal dominant Charcot-Marie-Tooth disease, type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 1993; 17: 370–375
- 25 Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory, 1982
- 26 Chance PF, Bird TD, O'Connell P, et al. Genetic linkage and heterogeneity in type 1 Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type 1). Am J Hum Genet 1990; 47: 915–925
- 27 Wright EC, Goldgar DE, Faln PR, et al. A genetic map of human chromosome 17. Genomics 1990; 7: 103–109
- 28 Lathrop GM, Lalouel JN, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482–498
- 29 Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 1980; 43: 413–418
- 30 Pridmore C, Baraitser M, Brett EM, Harding AE. Distal spinal muscular atrophy with vocal cord paralysis. J Med Genet 1992; 29: 197–199
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