Muscle weakness and Neuropathy: Difference between revisions

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{{CMG}}


==Differential Diagnosis of Muscle weakness and Neuropathy==
{|
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Organ system
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Disease
! colspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" + |Symptoms
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |History
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical
Examination
! colspan="4" style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnosis
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Age of onset
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myalgia
! style="background:#4479BA; color: #FFFFFF;" align="center" + |'''Contractures'''
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gait abnormality
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Neuropathy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Atrophy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Stiffness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myoglobinuria
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory Findings
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Creatine Kinase
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle Biopsy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Electromyogram
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Medication−induced
! style="background:#DCDCDC;" align="center" + |[[Alcohol]]<ref name="pmid11784353">{{cite journal |vauthors=Preedy VR, Adachi J, Ueno Y, Ahmed S, Mantle D, Mullatti N, Rajendram R, Peters TJ |title=Alcoholic skeletal muscle myopathy: definitions, features, contribution of neuropathy, impact and diagnosis |journal=Eur. J. Neurol. |volume=8 |issue=6 |pages=677–87 |date=November 2001 |pmid=11784353 |doi= |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |Variable
| style="background:#F5F5F5;" align="center" + |Proximal
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + | +/−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* [[Swelling]]
* Tender
* [[Erythema]] and induration
| style="background:#F5F5F5;" align="left" + |
* [[Alcohol]] intoxication
| style="background:#F5F5F5;" align="left" + |
* Change in [[mental status]]
* [[Telangiectasias|Telangiectasia]]
* [[Peripheral neuropathy]]
| style="background:#F5F5F5;" align="left" + |
* Monspecific and are normal in many patients
| style="background:#F5F5F5;" align="left" + |
* Normal or '''↑↑'''
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Normal
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Endocrine
! style="background:#DCDCDC;" align="center" + |Diabetic infraction<ref name="pmid25932331">{{cite journal |vauthors=Horton WB, Taylor JS, Ragland TJ, Subauste AR |title=Diabetic muscle infarction: a systematic review |journal=BMJ Open Diabetes Res Care |volume=3 |issue=1 |pages=e000082 |date=2015 |pmid=25932331 |pmc=4410119 |doi=10.1136/bmjdrc-2015-000082 |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |45 
| style="background:#F5F5F5;" align="center" + |Proximal
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="left" + |
* [[Cramps]]
* Sudden onset of [[pain]]
* Anterior thigh [[muscles]] are most commonly involved
| style="background:#F5F5F5;" align="left" + |
* H/O long standing [[diabetes]]
| style="background:#F5F5F5;" align="left" + |
* [[Swelling]]
* [[Tenderness]]
| style="background:#F5F5F5;" align="left" + |
* Elevated [[ESR]]
* [[Leukocytosis]]
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* [[Necrosis]]
* [[Edema]]
| style="background:#F5F5F5;" align="left" + |
* Normal
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Inflammatory/ Rheumatologic
! style="background:#DCDCDC;" align="center" + |[[Fibromyalgia]]<ref name="pmid27803417">{{cite journal |vauthors=Ohara N, Katada S, Yamada T, Mezaki N, Suzuki H, Suzuki A, Hanyu O, Yoneoka Y, Kawachi I, Shimohata T, Kakita A, Nishizawa M, Sone H |title=Fibromyalgia in a Patient with Cushing's Disease Accompanied by Central Hypothyroidism |journal=Intern. Med. |volume=55 |issue=21 |pages=3185–3190 |date=2016 |pmid=27803417 |pmc=5140872 |doi=10.2169/internalmedicine.55.5926 |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |40−50s
| style="background:#F5F5F5;" align="center" + |Generalized
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="left" + |
* [[Anxiety]] or depression features
* [[Fatigue]]
* Sleep disturbance
* [[Numbness]]
* [[Muscle spasms]]
| style="background:#F5F5F5;" align="left" + |
* History of [[depression]]
| style="background:#F5F5F5;" align="left" + |
* [[Tenderness]] in the soft tissue anatomical location
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Normal
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Organ system
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Disease
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Age of onset
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myalgia
! style="background:#4479BA; color: #FFFFFF;" align="center" + |'''Contractures'''
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gait abnormality
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Neuropathy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Atrophy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Stiffness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myoglobinuria
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
! style="background:#4479BA; color: #FFFFFF;" align="center" + |History
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical
Examination
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory Findings
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Creatine Kinase
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle Biopsy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Electromyogram
|-
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Infectious
! style="background:#DCDCDC;" align="center" + |[[Lyme disease]]<ref name="pmid2795056">{{cite journal |vauthors=Schoenen J, Sianard-Gainko J, Carpentier M, Reznik M |title=Myositis during Borrelia burgdorferi infection (Lyme disease) |journal=J. Neurol. Neurosurg. Psychiatry |volume=52 |issue=8 |pages=1002–5 |date=August 1989 |pmid=2795056 |pmc=1031843 |doi= |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |Variable
| style="background:#F5F5F5;" align="center" + |Proximal
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + | +/−
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* Erythema Migrans
* Flu−like symptoms
* [[Lyme arthritis]]
* [[Neurological]] manifestations
| style="background:#F5F5F5;" align="left" + |
* H/o tick bite
* Hiking trip
| style="background:#F5F5F5;" align="left" + |
* Target−like [[lesions]]
* HSM
| style="background:#F5F5F5;" align="left" + |
* Clinical diagnosis
* +Serology
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* N/A
|-
! style="background:#DCDCDC;" align="center" + |[[Polio]]<ref name="pmid15933355">{{cite journal |vauthors=Howard RS |title=Poliomyelitis and the postpolio syndrome |journal=BMJ |volume=330 |issue=7503 |pages=1314–8 |date=June 2005 |pmid=15933355 |pmc=558211 |doi=10.1136/bmj.330.7503.1314 |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |<5 yrs
| style="background:#F5F5F5;" align="center" + |Proximal
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* Asymmetrical [[paralysis]]
* [[Muscle atrophy]]
* [[Tremors]]
* [[Skeletal]] deformities
| style="background:#F5F5F5;" align="left" + |
* History of skipped immunization.
| style="background:#F5F5F5;" align="left" + |
* Normal
* [[Meningeal signs]]
* Asymmetrical flaccid paralysis
* Pharyngeal paralysis
| style="background:#F5F5F5;" align="left" + |
* Isolation from [[pharyngeal]]<nowiki/>secretions, CSF
* Positive serology
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* Neurological pattern
|-
! style="background:#DCDCDC;" align="center" + |[[Syphilis]]<ref name="pmid17235095">{{cite journal |vauthors=French P |title=Syphilis |journal=BMJ |volume=334 |issue=7585 |pages=143–7 |date=January 2007 |pmid=17235095 |pmc=1779891 |doi=10.1136/bmj.39085.518148.BE |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |Variable
| style="background:#F5F5F5;" align="center" + |Negative
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* [[Chancre]]
* [[Lymphadenopathy]]
* Condylomata lata
* [[Neurosyphilis|Neuro syphilis]]
* Cardiovascular syphilis
| style="background:#F5F5F5;" align="left" + |
* History of risk factors (MSM, unprotected sex, multiple sex partners)
| style="background:#F5F5F5;" align="left" + |
* Non−tender [[chancre]] in primary syphilis.
* Followed by [[rash]]
* Generalized [[lymphadenopathy]] in secondary syphilis
| style="background:#F5F5F5;" align="left" + |
* Darkfield examinations
* VDRL
* RPR
* [[FTA-ABS|FTA−ABS]]
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* N/A
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Organ system
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Disease
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Age of onset
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myalgia
! style="background:#4479BA; color: #FFFFFF;" align="center" + |'''Contractures'''
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gait abnormality
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Neuropathy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Atrophy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Stiffness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Myoglobinuria
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
! style="background:#4479BA; color: #FFFFFF;" align="center" + |History
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical
Examination
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory Findings
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Creatine Kinase
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle Biopsy
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Electromyogram
|-
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Neurologic
! style="background:#DCDCDC;" align="center" + |[[Amyotrophic lateral sclerosis|ALS]]<ref name="pmid26629397">{{cite journal |vauthors=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF, Pagani W, Lodin D, Orozco G, Chinea A |title=A comprehensive review of amyotrophic lateral sclerosis |journal=Surg Neurol Int |volume=6 |issue= |pages=171 |date=2015 |pmid=26629397 |pmc=4653353 |doi=10.4103/2152-7806.169561 |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |>35
| style="background:#F5F5F5;" align="center" + |Proximal<br>&<br>Distal
* Distal
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* [[Dysphagia]]
* [[Spasticity]]
* [[Hyperreflexia]]
* [[Babinski's sign|Babinski's]] +
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* Both [[Upper motor neurons|upper]] and [[lower motor neuron]] signs 
| style="background:#F5F5F5;" align="left" + |
* Clinical diagnosis
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Nonspecific findings of chronic denervation with reinnervation
| style="background:#F5F5F5;" align="left" + |
* Neuropathic
|-
! style="background:#DCDCDC;" align="center" + |[[Stroke]]<ref name="pmid20412000">{{cite journal |vauthors=Baldwin K, Orr S, Briand M, Piazza C, Veydt A, McCoy S |title=Acute ischemic stroke update |journal=Pharmacotherapy |volume=30 |issue=5 |pages=493–514 |date=May 2010 |pmid=20412000 |doi=10.1592/phco.30.5.493 |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |>65
| style="background:#F5F5F5;" align="center" + |Proximal<br>&<br>distal
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* [[Dysphagia]]
* Unilateral/Bilateral weakness
| style="background:#F5F5F5;" align="left" + |
* H/o [[Hypertension|HTN]], [[dyslipidaemia]] [[Diabetes mellitus|DM]]
| style="background:#F5F5F5;" align="left" + |
* Weakness of the involved arm
| style="background:#F5F5F5;" align="left" + |
*Head CT
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* Neuropathic
|-
! style="background:#DCDCDC;" align="center" + |[[Multiple sclerosis|Multiple Sclerosis]]<ref name="pmid22605909">{{cite journal |vauthors=Goldenberg MM |title=Multiple sclerosis review |journal=P T |volume=37 |issue=3 |pages=175–84 |date=March 2012 |pmid=22605909 |pmc=3351877 |doi= |url=}}</ref>
| style="background:#F5F5F5;" align="center" + |30's
| style="background:#F5F5F5;" align="center" + |Proximal<br>&<br>distal
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + | −
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="center" + |−
| style="background:#F5F5F5;" align="left" + |
* Ocular findings
* [[Urinary incontinence]]
* Problems with [[Speech and language pathology|speech]] or [[swallowing]]
| style="background:#F5F5F5;" align="left" + |
* Attacks or exacerbation
| style="background:#F5F5F5;" align="left" + |
** Localized weakness
** Focal sensory disturbances
** Hyper reactive reflexes
** Increased tone or stiffness
| style="background:#F5F5F5;" align="left" + |
* Head CT ologo−clonal bands
| style="background:#F5F5F5;" align="left" + |
* Normal
| style="background:#F5F5F5;" align="left" + |
* N/A
| style="background:#F5F5F5;" align="left" + |
* Neuropathic
|}
==References==
{{Reflist|2}}
[[Category:Medicine]]
[[Category:Neurology]]
[[Category:Rheumatology]]
[[Category:Up-To-Date]]

Latest revision as of 22:48, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Differential Diagnosis of Muscle weakness and Neuropathy

Organ system Disease Symptoms History Physical

Examination

Diagnosis
Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Medication−induced Alcohol[1] Variable Proximal + +/−
  • Monspecific and are normal in many patients
  • Normal or ↑↑
  • Normal
  • Normal
Endocrine Diabetic infraction[2] 45  Proximal + + + +
  • Normal
  • Normal
Inflammatory/ Rheumatologic Fibromyalgia[3] 40−50s Generalized +
  • Normal
  • Normal
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Infectious Lyme disease[4] Variable Proximal + + +/− +
  • H/o tick bite
  • Hiking trip
  • Clinical diagnosis
  • +Serology
  • N/A
  • N/A
  • N/A
Polio[5] <5 yrs Proximal + + +
  • History of skipped immunization.
  • Isolation from pharyngealsecretions, CSF
  • Positive serology
  • N/A
  • N/A
  • Neurological pattern
Syphilis[6] Variable Negative + +
  • History of risk factors (MSM, unprotected sex, multiple sex partners)
  • N/A
  • N/A
  • N/A
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Neurologic ALS[7] >35 Proximal
&
Distal
  • Distal
+ + +
  • N/A
  • Clinical diagnosis
  • Normal
  • Nonspecific findings of chronic denervation with reinnervation
  • Neuropathic
Stroke[8] >65 Proximal
&
distal
+ + +
  • Weakness of the involved arm
  • Head CT
  • Normal
  • Normal
  • Neuropathic
Multiple Sclerosis[9] 30's Proximal
&
distal
+ +
  • Attacks or exacerbation
    • Localized weakness
    • Focal sensory disturbances
    • Hyper reactive reflexes
    • Increased tone or stiffness
  • Head CT ologo−clonal bands
  • Normal
  • N/A
  • Neuropathic

References

  1. Preedy VR, Adachi J, Ueno Y, Ahmed S, Mantle D, Mullatti N, Rajendram R, Peters TJ (November 2001). "Alcoholic skeletal muscle myopathy: definitions, features, contribution of neuropathy, impact and diagnosis". Eur. J. Neurol. 8 (6): 677–87. PMID 11784353.
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