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Literature DB >> 2133612

Diaphragmatic weakness in hereditary motor and sensory neuropathy.

R Hardie¹, A E Harding, N Hirsch, C Gelder, A D Macrae, P K Thomas.

Abstract

Six patients severely affected by hereditary motor and sensory neuropathy (HMSN), four type I and two type II, had clinical evidence of diaphragmatic weakness. One presented with cardiorespiratory failure secondary to nocturnal hypoventilation, and three others were unable to lie flat because of dyspnoea. Diaphragmatic paralysis should be considered as a cause of respiratory or cardiac failure in cases of HMSN.

Entities: Disease Species

Mesh：

Year: 1990 PMID： 2133612 PMCID： PMC1014177 DOI： 10.1136/jnnp.53.4.348

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

8 in total

1. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Authors: P J Dyck; E H Lambert
Journal: Arch Neurol Date: 1968-06

2. Enigmatic dyspnoea: an unusual presentation of motor-neurone disease.

Authors: S Nightingale; D Bates; D E Bateman; P Hudgson; D A Ellis; G J Gibson
Journal: Lancet Date: 1982-04-24 Impact factor: 79.321

3. Acid maltase deficiency in adults. Diagnosis and management in five cases.

Authors: P S Trend; C M Wiles; G T Spencer; J A Morgan-Hughes; B D Lake; A D Patrick
Journal: Brain Date: 1985-12 Impact factor: 13.501

4. Autosomal recessive forms of hereditary motor and sensory neuropathy.

Authors: A E Harding; P K Thomas
Journal: J Neurol Neurosurg Psychiatry Date: 1980-08 Impact factor: 10.154

5. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

Authors: C K Chan; V Mohsenin; J Loke; J Virgulto; M L Sipski; R Ferranti
Journal: Chest Date: 1987-04 Impact factor: 9.410

6. Diaphragm function and alveolar hypoventilation.

Authors: J Davis; M Goldman; L Loh; M Casson
Journal: Q J Med Date: 1976-01

7. The clinical features of hereditary motor and sensory neuropathy types I and II.

Authors: A E Harding; P K Thomas
Journal: Brain Date: 1980-06 Impact factor: 13.501

8. The late sequelae of poliomyelitis.

Authors: R S Howard; C M Wiles; G T Spencer
Journal: Q J Med Date: 1988-03

8 in total

7 in total

Diaphragmatic weakness in hereditary motor and sensory neuropathy.

1. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

2. Enigmatic dyspnoea: an unusual presentation of motor-neurone disease.

3. Acid maltase deficiency in adults. Diagnosis and management in five cases.

4. Autosomal recessive forms of hereditary motor and sensory neuropathy.

5. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

6. Diaphragm function and alveolar hypoventilation.

7. The clinical features of hereditary motor and sensory neuropathy types I and II.

8. The late sequelae of poliomyelitis.

Review 1. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

2. Diaphragmatic weakness in hereditary motor and sensory neuropathy.

Review 3. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Review 4. Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.

5. Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.

6. Lightning strike: a first case of unilateral diaphragmatic paralysis.

Review 7. Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.