Diaphragmatic paralysis causes: Difference between revisions
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==Overview== | ==Overview== | ||
Common causes of unilateral diphragmatic paralysis include [[idiopathic]], [[phrenic nerve]] injury in [[cardiac surgery]] and viral infection and less common causes of it include [[cervical spondylosis]], cervical compressive tumors and blunt neck [[trauma]]. Common causes of bilateral diphragmatic paralysis include [[idiopathic]], cervical [[spinal cord]] disease and [[motor neuron disease]]. Less common causes of bilateral diphragmatic paralysis include parsonage turner syndrome and [[malnutrition]]. | |||
==Causes== | |||
===Life-threatening Causes=== | |||
*Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of diaphragmatic paralysis | |||
Common | ===Common Causes=== | ||
==== Unilateral diaphragmatic paralysis :<ref name="DubéDres2016">{{cite journal|last1=Dubé|first1=Bruno-Pierre|last2=Dres|first2=Martin|title=Diaphragm Dysfunction: Diagnostic Approaches and Management Strategies|journal=Journal of Clinical Medicine|volume=5|issue=12|year=2016|pages=113|issn=2077-0383|doi=10.3390/jcm5120113}}</ref> ==== | |||
* [[Idiopathic]] in many cases | |||
*[[Phrenic nerve]] injury in [[cardiac surgery]] due to cooling or streching <ref name="pmid14723798">{{cite journal |vauthors=Canbaz S, Turgut N, Halici U, Balci K, Ege T, Duran E |title=Electrophysiological evaluation of phrenic nerve injury during cardiac surgery--a prospective, controlled, clinical study |journal=BMC Surg |volume=4 |issue= |pages=2 |year=2004 |pmid=14723798 |pmc=320489 |doi=10.1186/1471-2482-4-2 |url=}}</ref> | |||
*[[Virus|Viral]] infections such as: | |||
**[[Herpes zoster]] | |||
**[[Poliomyelitis]] | |||
==== Bilateral diaphragmatic paralysis:<ref name="pmid27929389">{{cite journal |vauthors=Dubé BP, Dres M |title=Diaphragm Dysfunction: Diagnostic Approaches and Management Strategies |journal=J Clin Med |volume=5 |issue=12 |pages= |year=2016 |pmid=27929389 |pmc=5184786 |doi=10.3390/jcm5120113 |url=}}</ref> ==== | |||
* [[Idiopathic]] in many cases | |||
* Cervical [[spinal cord]] disease such as | |||
** Large tumors | |||
** Spinal cord transection | |||
* [[Motor neuron disease]] such as: <ref name="pmid8774419">{{cite journal |vauthors=Chen R, Grand'Maison F, Strong MJ, Ramsay DA, Bolton CF |title=Motor neuron disease presenting as acute respiratory failure: a clinical and pathological study |journal=J. Neurol. Neurosurg. Psychiatry |volume=60 |issue=4 |pages=455–8 |year=1996 |pmid=8774419 |pmc=1073907 |doi= |url=}}</ref> | |||
** [[Amyotrophic lateral sclerosis]] | |||
* [[Neuropathy]] | |||
** [[Post-polio syndrome]] | |||
* | ** [[Guillain-Barré syndrome]] | ||
* | ** Post-viral [[neuropathy]] ( [[West nile virus|West Nile virus]] )<ref name="pmid14985569">{{cite journal |vauthors=Betensley AD, Jaffery SH, Collins H, Sripathi N, Alabi F |title=Bilateral diaphragmatic paralysis and related respiratory complications in a patient with West Nile virus infection |journal=Thorax |volume=59 |issue=3 |pages=268–9 |year=2004 |pmid=14985569 |pmc=1746955 |doi= |url=}}</ref> | ||
*[ | ** [[Thyroid disease|Thyroid Disease]] | ||
** [[Autoimmune diseases]] | |||
=== | * [[Neuromuscular junction disease]] | ||
** [[Myasthenia gravis]]<ref name="pmid18785183">{{cite journal |vauthors=Valadas A, de Carvalho M |title=Myasthenia gravis and respiratory failure related to phrenic nerve lesion |journal=Muscle Nerve |volume=38 |issue=4 |pages=1340–1 |year=2008 |pmid=18785183 |doi=10.1002/mus.21067 |url=}}</ref> | |||
==== | ** [[Lambert-Eaton myasthenic syndrome]] <ref name="NicolleStewart1996">{{cite journal|last1=Nicolle|first1=Michael W.|last2=Stewart|first2=Dwight J.|last3=Remtulla|first3=Hussein|last4=Chen|first4=Robert|last5=Bolton|first5=Charles F.|title=Lambert-Eaton myasthenic syndrome presenting with severe respiratory failure|journal=Muscle & Nerve|volume=19|issue=10|year=1996|pages=1328–1333|issn=0148-639X|doi=10.1002/(SICI)1097-4598(199610)19:10<1328::AID-MUS10>3.0.CO;2-Q}}</ref> | ||
* | ** Systemic [[botulism]] | ||
* | * Muscle disease | ||
** | ** [[Polymyositis]] | ||
** | ** [[Dermatomyositis]] | ||
* | ** Inclusion body myopathy | ||
** [[Limb-girdle muscular dystrophy]] | |||
** [[Acid maltase deficiency]] | |||
** [[Hypothyroidism]] | |||
** [[Hyperthyroidism]] | |||
*[ | |||
*[ | |||
===Less Common Causes=== | ===Less Common Causes=== | ||
==== Unilateral diaphragmatic paralysis : <ref name="pmid10893396">{{cite journal |vauthors=Chapman SA, Holmes MD, Taylor DJ |title=Unilateral diaphragmatic paralysis following bronchial artery embolization for hemoptysis |journal=Chest |volume=118 |issue=1 |pages=269–70 |year=2000 |pmid=10893396 |doi= |url=}}</ref> ==== | ==== Unilateral diaphragmatic paralysis : <ref name="pmid10893396">{{cite journal |vauthors=Chapman SA, Holmes MD, Taylor DJ |title=Unilateral diaphragmatic paralysis following bronchial artery embolization for hemoptysis |journal=Chest |volume=118 |issue=1 |pages=269–70 |year=2000 |pmid=10893396 |doi= |url=}}</ref> ==== | ||
* Cervical spondylosis | * [[Cervical spondylosis]] | ||
* Cervical compressive tumors | * Cervical compressive tumors | ||
* Blunt neck trauma | * Blunt neck trauma | ||
* Neck surgery | * Neck surgery | ||
* Pneumonia | * [[Pneumonia]] | ||
* Iatrogenic embolization | * [[Iatrogenic]] embolization such as [[bronchial artery]] [[embolization]] for treatment of [[hemoptysis]] | ||
* Neuralgic amyotrophy | * Neuralgic [[amyotrophy]] (inflammatory disorder of [[brachial plexus]])<ref name="pmid16717226">{{cite journal |vauthors=Tsao BE, Ostrovskiy DA, Wilbourn AJ, Shields RW |title=Phrenic neuropathy due to neuralgic amyotrophy |journal=Neurology |volume=66 |issue=10 |pages=1582–4 |year=2006 |pmid=16717226 |doi=10.1212/01.wnl.0000216140.25497.40 |url=}}</ref> | ||
==== Bilateral diaphragmatic paralysis : ==== | ==== Bilateral diaphragmatic paralysis :<ref name="pmid27929389" /> ==== | ||
Less common causes of | Less common causes of diaphragmatic paralysis include: | ||
* | *Parsonage Turner syndrome (brachial neuritis or neuralgic amyotrophy) | ||
*[ | *[[Malnutrition]]<ref name="MurcianoRigaud1994">{{cite journal|last1=Murciano|first1=D|last2=Rigaud|first2=D|last3=Pingleton|first3=S|last4=Armengaud|first4=M H|last5=Melchior|first5=J C|last6=Aubier|first6=M|title=Diaphragmatic function in severely malnourished patients with anorexia nervosa. Effects of renutrition.|journal=American Journal of Respiratory and Critical Care Medicine|volume=150|issue=6|year=1994|pages=1569–1574|issn=1073-449X|doi=10.1164/ajrccm.150.6.7952616}}</ref> | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
*[ | *Diaphragmatic paralysis due to [[spinal muscular atrophy]] caused by a [[mutation]] in the survival motor neuron 1 (SMN1) gene on chromosome 5q13.2.<ref name="pmid2407409">{{cite journal |vauthors=Sivan Y, Galvis A |title=Early diaphragmatic paralysis. In infants with genetic disorders |journal=Clin Pediatr (Phila) |volume=29 |issue=3 |pages=169–71 |year=1990 |pmid=2407409 |doi=10.1177/000992289002900305 |url=}}</ref> | ||
*[[Pompe's Disease|Acid maltase deficency]] as a cause of diaphragmatic paralysis caused by a [[mutation]] in GAA gene on chromosome band 17q23.<ref name="pmid16702877">{{cite journal |vauthors=Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS |title=Pompe disease diagnosis and management guideline |journal=Genet. Med. |volume=8 |issue=5 |pages=267–88 |year=2006 |pmid=16702877 |pmc=3110959 |doi=10.109701.gim.0000218152.87434.f3 |url=}}</ref> | |||
===Causes by Organ System=== | ===Causes by Organ System=== | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Endocrine''' | | '''Endocrine''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Hypothyroidism]], [[Hyperthyroidism]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Gastroenterologic''' | | '''Gastroenterologic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | Systemic [[botulism]], [[Malnutrition]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Genetic''' | | '''Genetic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Acid maltase deficiency]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Iatrogenic''' | | '''Iatrogenic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" |[[Phrenic nerve]] injury in [[cardiac surgery]], Neck surgery, [[Iatrogenic]] [[embolization]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Infectious Disease''' | | '''Infectious Disease''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Herpes zoster]], [[Poliomyelitis]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Musculoskeletal/Orthopedic''' | | '''Musculoskeletal/Orthopedic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Polymyositis]], [[Dermatomyositis]], Inclusion body myopathy, [[Limb-girdle muscular dystrophy]], [[Acid maltase deficiency]], [[Cervical spondylosis]], | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Neurologic''' | | '''Neurologic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | Large tumors, Spinal cord transection, [[Amyotrophic lateral sclerosis]], [[Guillain-Barré syndrome]], Post-viral [[neuropathy]], [[Myasthenia gravis]], Systemic [[botulism]], Neuralgic amyotrophy, Parsonage Turner syndrome | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Oncologic''' | | '''Oncologic''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | Cervical compressive tumors, | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Pulmonary''' | | '''Pulmonary''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Pneumonia]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Rheumatology/Immunology/Allergy''' | | '''Rheumatology/Immunology/Allergy''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Autoimmune diseases]],[[Lambert-Eaton myasthenic syndrome]] , [[Polymyositis]], [[Dermatomyositis]] | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Trauma''' | | '''Trauma''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | Blunt neck trauma, | ||
|- | |- | ||
|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
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|- bgcolor="LightSteelBlue" | |- bgcolor="LightSteelBlue" | ||
| '''Miscellaneous''' | | '''Miscellaneous''' | ||
| bgcolor="Beige" | | | bgcolor="Beige" | [[Idiopathic]] | ||
|- | |- | ||
|} | |} | ||
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===Causes in Alphabetical Order=== | ===Causes in Alphabetical Order=== | ||
List the causes of the disease in alphabetical order. | List the causes of the disease in alphabetical order. | ||
{{columns-list | {{columns-list| | ||
* | *Acid maltase deficency | ||
* | *[[Amyotrophic lateral sclerosis]] | ||
* | *[[Autoimmune diseases]] | ||
* | *Blunt neck [[trauma]] | ||
* | *Cervical compressive [[tumors]] | ||
* | *[[Cervical spondylosis]] | ||
* | *[[Dermatomyositis]] | ||
* | *[[Lambert-Eaton myasthenic syndrome]] | ||
* | *[[Guillain-Barré syndrome]] | ||
* | *[[Herpes zoster]] | ||
*[[Hyperthyroidism]] | |||
*[[Hypothyroidism ]] | |||
*[[Iatrogenic]] [[embolization]] | |||
*[[Idiopathic]] | |||
*Inclusion body myopathy | |||
*[[Limb-girdle muscular dystrophy]] | |||
*[[Malnutrition]] | |||
*[[Myasthenia gravis]] | |||
*Neck surgery | |||
*Neuralgic amyotrophy (inflammatory disorder of brachial plexus) | |||
*Parsonage Turner syndrome | |||
*[[Phrenic nerve]] injury in cardiac surgery due to cooling or streching | |||
*[[Pneumonia]] | |||
*[[Poliomyelitis]] | |||
*[[Polymyositis]] | |||
*Post-polio syndrome | |||
*Post-viral [[neuropathy ]]( West Nile virus ) | |||
*Spinal cord transection | |||
*[[spinal muscular atrophy]] | |||
*Systemic [[botulism ]] | |||
*[[Tumors]] | |||
}} | }} | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: | |||
[[Category:Medicine]] | |||
[[Category:Pulmonology]] | |||
[[Category:Up-To-Date]] |
Latest revision as of 21:21, 29 July 2020
Diaphragmatic Paralysis Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Diaphragmatic paralysis causes On the Web |
American Roentgen Ray Society Images of Diaphragmatic paralysis causes |
Risk calculators and risk factors for Diaphragmatic paralysis causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2]
Overview
Common causes of unilateral diphragmatic paralysis include idiopathic, phrenic nerve injury in cardiac surgery and viral infection and less common causes of it include cervical spondylosis, cervical compressive tumors and blunt neck trauma. Common causes of bilateral diphragmatic paralysis include idiopathic, cervical spinal cord disease and motor neuron disease. Less common causes of bilateral diphragmatic paralysis include parsonage turner syndrome and malnutrition.
Causes
Life-threatening Causes
- Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of diaphragmatic paralysis
Common Causes
Unilateral diaphragmatic paralysis :[1]
- Idiopathic in many cases
- Phrenic nerve injury in cardiac surgery due to cooling or streching [2]
- Viral infections such as:
Bilateral diaphragmatic paralysis:[3]
- Idiopathic in many cases
- Cervical spinal cord disease such as
- Large tumors
- Spinal cord transection
- Neuromuscular junction disease
- Muscle disease
- Polymyositis
- Dermatomyositis
- Inclusion body myopathy
- Limb-girdle muscular dystrophy
- Acid maltase deficiency
- Hypothyroidism
- Hyperthyroidism
Less Common Causes
Unilateral diaphragmatic paralysis : [8]
- Cervical spondylosis
- Cervical compressive tumors
- Blunt neck trauma
- Neck surgery
- Pneumonia
- Iatrogenic embolization such as bronchial artery embolization for treatment of hemoptysis
- Neuralgic amyotrophy (inflammatory disorder of brachial plexus)[9]
Bilateral diaphragmatic paralysis :[3]
Less common causes of diaphragmatic paralysis include:
- Parsonage Turner syndrome (brachial neuritis or neuralgic amyotrophy)
- Malnutrition[10]
Genetic Causes
- Diaphragmatic paralysis due to spinal muscular atrophy caused by a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q13.2.[11]
- Acid maltase deficency as a cause of diaphragmatic paralysis caused by a mutation in GAA gene on chromosome band 17q23.[12]
Causes by Organ System
Cardiovascular | No underlying causes |
Chemical/Poisoning | No underlying causes |
Dental | No underlying causes |
Dermatologic | No underlying causes |
Drug Side Effect | No underlying causes |
Ear Nose Throat | No underlying causes |
Endocrine | Hypothyroidism, Hyperthyroidism |
Environmental | No underlying causes |
Gastroenterologic | Systemic botulism, Malnutrition |
Genetic | Acid maltase deficiency |
Hematologic | No underlying causes |
Iatrogenic | Phrenic nerve injury in cardiac surgery, Neck surgery, Iatrogenic embolization |
Infectious Disease | Herpes zoster, Poliomyelitis |
Musculoskeletal/Orthopedic | Polymyositis, Dermatomyositis, Inclusion body myopathy, Limb-girdle muscular dystrophy, Acid maltase deficiency, Cervical spondylosis, |
Neurologic | Large tumors, Spinal cord transection, Amyotrophic lateral sclerosis, Guillain-Barré syndrome, Post-viral neuropathy, Myasthenia gravis, Systemic botulism, Neuralgic amyotrophy, Parsonage Turner syndrome |
Nutritional/Metabolic | No underlying causes |
Obstetric/Gynecologic | No underlying causes |
Oncologic | Cervical compressive tumors, |
Ophthalmologic | No underlying causes |
Overdose/Toxicity | No underlying causes |
Psychiatric | No underlying causes |
Pulmonary | Pneumonia |
Renal/Electrolyte | No underlying causes |
Rheumatology/Immunology/Allergy | Autoimmune diseases,Lambert-Eaton myasthenic syndrome , Polymyositis, Dermatomyositis |
Sexual | No underlying causes |
Trauma | Blunt neck trauma, |
Urologic | No underlying causes |
Miscellaneous | Idiopathic |
Causes in Alphabetical Order
List the causes of the disease in alphabetical order.
- Acid maltase deficency
- Amyotrophic lateral sclerosis
- Autoimmune diseases
- Blunt neck trauma
- Cervical compressive tumors
- Cervical spondylosis
- Dermatomyositis
- Lambert-Eaton myasthenic syndrome
- Guillain-Barré syndrome
- Herpes zoster
- Hyperthyroidism
- Hypothyroidism
- Iatrogenic embolization
- Idiopathic
- Inclusion body myopathy
- Limb-girdle muscular dystrophy
- Malnutrition
- Myasthenia gravis
- Neck surgery
- Neuralgic amyotrophy (inflammatory disorder of brachial plexus)
- Parsonage Turner syndrome
- Phrenic nerve injury in cardiac surgery due to cooling or streching
- Pneumonia
- Poliomyelitis
- Polymyositis
- Post-polio syndrome
- Post-viral neuropathy ( West Nile virus )
- Spinal cord transection
- spinal muscular atrophy
- Systemic botulism
- Tumors
References
- ↑ Dubé, Bruno-Pierre; Dres, Martin (2016). "Diaphragm Dysfunction: Diagnostic Approaches and Management Strategies". Journal of Clinical Medicine. 5 (12): 113. doi:10.3390/jcm5120113. ISSN 2077-0383.
- ↑ Canbaz S, Turgut N, Halici U, Balci K, Ege T, Duran E (2004). "Electrophysiological evaluation of phrenic nerve injury during cardiac surgery--a prospective, controlled, clinical study". BMC Surg. 4: 2. doi:10.1186/1471-2482-4-2. PMC 320489. PMID 14723798.
- ↑ 3.0 3.1 Dubé BP, Dres M (2016). "Diaphragm Dysfunction: Diagnostic Approaches and Management Strategies". J Clin Med. 5 (12). doi:10.3390/jcm5120113. PMC 5184786. PMID 27929389.
- ↑ Chen R, Grand'Maison F, Strong MJ, Ramsay DA, Bolton CF (1996). "Motor neuron disease presenting as acute respiratory failure: a clinical and pathological study". J. Neurol. Neurosurg. Psychiatry. 60 (4): 455–8. PMC 1073907. PMID 8774419.
- ↑ Betensley AD, Jaffery SH, Collins H, Sripathi N, Alabi F (2004). "Bilateral diaphragmatic paralysis and related respiratory complications in a patient with West Nile virus infection". Thorax. 59 (3): 268–9. PMC 1746955. PMID 14985569.
- ↑ Valadas A, de Carvalho M (2008). "Myasthenia gravis and respiratory failure related to phrenic nerve lesion". Muscle Nerve. 38 (4): 1340–1. doi:10.1002/mus.21067. PMID 18785183.
- ↑ Nicolle, Michael W.; Stewart, Dwight J.; Remtulla, Hussein; Chen, Robert; Bolton, Charles F. (1996). "Lambert-Eaton myasthenic syndrome presenting with severe respiratory failure". Muscle & Nerve. 19 (10): 1328–1333. doi:10.1002/(SICI)1097-4598(199610)19:10<1328::AID-MUS10>3.0.CO;2-Q. ISSN 0148-639X.
- ↑ Chapman SA, Holmes MD, Taylor DJ (2000). "Unilateral diaphragmatic paralysis following bronchial artery embolization for hemoptysis". Chest. 118 (1): 269–70. PMID 10893396.
- ↑ Tsao BE, Ostrovskiy DA, Wilbourn AJ, Shields RW (2006). "Phrenic neuropathy due to neuralgic amyotrophy". Neurology. 66 (10): 1582–4. doi:10.1212/01.wnl.0000216140.25497.40. PMID 16717226.
- ↑ Murciano, D; Rigaud, D; Pingleton, S; Armengaud, M H; Melchior, J C; Aubier, M (1994). "Diaphragmatic function in severely malnourished patients with anorexia nervosa. Effects of renutrition". American Journal of Respiratory and Critical Care Medicine. 150 (6): 1569–1574. doi:10.1164/ajrccm.150.6.7952616. ISSN 1073-449X.
- ↑ Sivan Y, Galvis A (1990). "Early diaphragmatic paralysis. In infants with genetic disorders". Clin Pediatr (Phila). 29 (3): 169–71. doi:10.1177/000992289002900305. PMID 2407409.
- ↑ Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS (2006). "Pompe disease diagnosis and management guideline". Genet. Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=
value (help). PMC 3110959. PMID 16702877.