Amyotrophic lateral sclerosis physical examination: Difference between revisions

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==Overview==
==Overview==
The presence of both Upper motor neuron and lower motor neuron signs on Physical examination in the same region with the exclusion of any other Neurological condition is highly suggestive of Amyotrophic lateral sclerosis.


==Physical Examination==
==Physical Examination==


*ALS leads to progressive degeneration of the [[motor neurons]] that supply voluntary [[Muscle|muscles]], including [[Lower motor neuron|Lower motor neurons]] in the [[medulla]] and anterior horn of the spinal cord as well as [[Lower motor neuron]]<nowiki/>s in the [[cerebral cortex]].
*ALS leads to progressive degeneration of the [[motor neurons]] that supply voluntary [[Muscle|muscles]], including [[Lower motor neuron|Lower motor neurons]] in the [[medulla]] and anterior horn of the spinal cord as well as [[Lower motor neuron]]<nowiki/>s in the [[cerebral cortex]].
*Physical examination of patients with amyotrophic lateral sclerosis is usually remarkable for:
*Physical examination of patients with amyotrophic lateral sclerosis is usually remarkable for:<ref name="pmid24124634">{{cite journal| author=Gordon PH| title=Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials. | journal=Aging Dis | year= 2013 | volume= 4 | issue= 5 | pages= 295-310 | pmid=24124634 | doi=10.14336/AD.2013.0400295 | pmc=3794725 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24124634  }} </ref><ref name="pmid26629397">{{cite journal| author=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF et al.| title=A comprehensive review of amyotrophic lateral sclerosis. | journal=Surg Neurol Int | year= 2015 | volume= 6 | issue=  | pages= 171 | pmid=26629397 | doi=10.4103/2152-7806.169561 | pmc=4653353 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26629397  }} </ref><ref name="pmid6696604">{{cite journal| author=Goldfarb BJ, Simon SR| title=Gait patterns in patients with amyotrophic lateral sclerosis. | journal=Arch Phys Med Rehabil | year= 1984 | volume= 65 | issue= 2 | pages= 61-5 | pmid=6696604 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6696604  }} </ref>
*#[[Lower motor neuron]] signs:
#[[Lower motor neuron]] signs:
*#*[[Fasciculation]]
#*[[Fasciculation]]
*#*[[Cramps]]
#*[[Cramps]]
*#*[[Muscle atrophy]]
#*[[Muscle atrophy]]
*#*Marked [[weakness]]
#*Marked [[weakness]]
*#[[Upper motor neuron]] signs:
#[[Upper motor neuron]] signs:
*#*[[Spasticity]]
#*[[Spasticity]]
*#*[[Hyperreflexia]]
#*[[Hyperreflexia]]
*#*[[Weakness]]
#*[[Weakness]]
*#*Positive [[Babinski sign]]
#*Positive [[Babinski sign]]
*#*Positive [[Hoffmann sign]]
#*Positive [[Hoffmann sign]]
*#*Emotional lability
#*Emotional lability
#[[Foot drop]]
#Difficulty walking
#Abnormal gait patterns


* ALS begins in the limbs, usually the arms, in about two-thirds of patients. The first symptoms are most often unilateral and focal.
* ALS begins in the limbs, usually the arms, in about two-thirds of patients. The first symptoms are most often unilateral and focal. As limb function deteriorates, patients become dependent on caregivers.<ref name="pmid24124634">{{cite journal| author=Gordon PH| title=Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials. | journal=Aging Dis | year= 2013 | volume= 4 | issue= 5 | pages= 295-310 | pmid=24124634 | doi=10.14336/AD.2013.0400295 | pmc=3794725 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24124634  }} </ref><ref name="pmid26629397">{{cite journal| author=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF et al.| title=A comprehensive review of amyotrophic lateral sclerosis. | journal=Surg Neurol Int | year= 2015 | volume= 6 | issue=  | pages= 171 | pmid=26629397 | doi=10.4103/2152-7806.169561 | pmc=4653353 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26629397  }} </ref><ref name="pmid6696604">{{cite journal| author=Goldfarb BJ, Simon SR| title=Gait patterns in patients with amyotrophic lateral sclerosis. | journal=Arch Phys Med Rehabil | year= 1984 | volume= 65 | issue= 2 | pages= 61-5 | pmid=6696604 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6696604  }} </ref>
*
*Sphincter and sensory functions are usually, but not always, spared. Eye movements are preserved until advanced stages.<ref name="pmid24124634">{{cite journal| author=Gordon PH| title=Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials. | journal=Aging Dis | year= 2013 | volume= 4 | issue= 5 | pages= 295-310 | pmid=24124634 | doi=10.14336/AD.2013.0400295 | pmc=3794725 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24124634  }} </ref>
*
*
* . As limb function deteriorates, patients become dependent on caregivers. They may fall and lose the ability to walk. Bulbar-onset ALS, which is more frequent in older women, carries a worse prognosis [23]. The first symptom is often dysarthria followed by dysphagia, which may progress to sialorrhea, malnutrition and anarthria. An atrophied fasciculating tongue is practically diagnostic of bulbar ALS. Axial weakness can cause dropped head and kyphosis, which are associated with pain and poor balance. Sphincter and sensory functions are usually, but not always, spared. Eye movements are preserved until advanced stages.
Cognitive impairment in ALS was described by Pierre Marie in the 19th century [24], but was considered uncommon until recently. Overt frontotemporal dementia (FTD) occurs in approximately 15% of people with ALS, but up to 50% are classified as impaired if measured by neuropsychological tests [25,26]. Primary progressive aphasia, semantic dementia and the behavioral variant are subtypes of FTD that affect executive function, language, judgment, personality, and behavior. Patients with ALS and dementia have shorter survival, possibly as a result of indecisiveness about care [27].
 
Depression and anxiety can occur during any stage of the disease, from time of diagnosis to respiratory failure, but patients with ALS often approach the disease philosophically and rates of depression seem to be lower than expected [28]. When present, emotional symptoms impair quality of life through poor sleep and appetite, as well as feelings of hopelessness [29].
 
Pain can occasionally result from involvement of sensory neurons, and frequently from contractures, immobility, inability to turn in bed, or bedsores. The suffering that arises from being unable to move can be intense (www.nybooks.com/articles/archives/2010/jan/14/night).
 
Morning headache, weak cough, orthopnea, and exertional dyspnea are early respiratory symptoms. As the disease advances, shortness of breath occurs during simple tasks such as dressing and eating, and eventually at rest.
 
The diagnosis, which depends on progressive UNM and LMN findings by history and examination, is accurate 95% of the time when made by an experienced clinician [30]. Electromyography confirms widespread LMN disease and excludes other diseases such as multifocal motor neuropathy with conduction block. Brain and spinal MRI rule out conditions that affect the UMN, including cervical spondylosis. Occasionally the brain MRI shows bilateral signal changes within the corticospinal tracts, a finding that is pathognomonic of ALS.
 
The El Escorialcriteria help standardize diagnosis for clinical research studies[31] (Table 1). Progressive LMN disease by clinical and electromyographic examination, and clinical UMN signs are the core. Patients are classified by the number of involved body regions: bulbar, cervical, thoracic or lumbosacral. Recent modifications created on Awaji Island near Japan may improve diagnostic sensitivity, particularly for those with bulbar-onset in whom limb findings can be subtle [32].
 
===Vital Signs===
 
*High-grade / low-grade fever
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]
 
===Skin===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[Pallor]]
* Bruises
 
<gallery widths="150px">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>


===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
*Dropped head
OR
* Atrophied fasciculating tongu
* Abnormalities of the head/hair may include ___
* [[Nystagmus]] in advanced diseases
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]  
* Extra-ocular movements may be abnormal
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
* Hearing acuity is normal
*Ophthalmoscopic exam may be abnormal with findings of ___
 
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
* Neck examination of patients with [disease name] is usually normal.
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]


===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
 
OR
* Asymmetric chest expansion or decreased chest expansion may be seen
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope


*Displaced point of maximal impulse (PMI) suggestive of cardiac muscle atrophy<ref name="pmid25133001">{{cite journal| author=Namazi MH, Khaheshi I, Haybar H, Esmaeeli S| title=Cardiac failure as an unusual presentation in a patient with history of amyotrophic lateral sclerosis. | journal=Case Rep Neurol Med | year= 2014 | volume= 2014 | issue=  | pages= 986139 | pmid=25133001 | doi=10.1155/2014/986139 | pmc=4123615 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25133001  }} </ref>
*Heart murmur<ref name="pmid29021775">{{cite journal| author=Rosenbohm A, Schmid B, Buckert D, Rottbauer W, Kassubek J, Ludolph AC et al.| title=Cardiac Findings in Amyotrophic Lateral Sclerosis: A Magnetic Resonance Imaging Study. | journal=Front Neurol | year= 2017 | volume= 8 | issue=  | pages= 479 | pmid=29021775 | doi=10.3389/fneur.2017.00479 | pmc=5623666 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29021775  }} </ref>
===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
* Abdominal examination of patients with ALS is usually normal.
OR
*[[Abdominal distention]]
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
* Back examination of patients with ALS is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
*Urinary retention is common in patients with ALS. Urological evaluation is indicated in ALS patients with prominent spasticity.<ref name="pmid21506896">{{cite journal| author=Lopes de Carvalho ML, Motta R, Battaglia MA, Brichetto G| title=Urinary disorders in amyotrophic lateral sclerosis subjects. | journal=Amyotroph Lateral Scler | year= 2011 | volume= 12 | issue= 5 | pages= 352-5 | pmid=21506896 | doi=10.3109/17482968.2011.574141 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21506896  }} </ref>
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
 
OR
* Hyperreflexia or hyporeflexia
*Patient is usually oriented to persons, place, and time
* Positive Babinski bilaterally
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* Proximal and distal muscle weakness bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Bilateral upper and lower extremity weakness
*Unilateral/bilateral upper/lower extremity weakness
*Abnormal gait
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===

Latest revision as of 19:12, 15 September 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

The presence of both Upper motor neuron and lower motor neuron signs on Physical examination in the same region with the exclusion of any other Neurological condition is highly suggestive of Amyotrophic lateral sclerosis.

Physical Examination

  1. Lower motor neuron signs:
  2. Upper motor neuron signs:
  3. Foot drop
  4. Difficulty walking
  5. Abnormal gait patterns
  • ALS begins in the limbs, usually the arms, in about two-thirds of patients. The first symptoms are most often unilateral and focal. As limb function deteriorates, patients become dependent on caregivers.[1][2][3]
  • Sphincter and sensory functions are usually, but not always, spared. Eye movements are preserved until advanced stages.[1]

HEENT

  • Dropped head
  • Atrophied fasciculating tongu
  • Nystagmus in advanced diseases
  • Extra-ocular movements may be abnormal
  • Hearing acuity is normal


Lungs

  • Asymmetric chest expansion or decreased chest expansion may be seen

Heart

  • Displaced point of maximal impulse (PMI) suggestive of cardiac muscle atrophy[4]
  • Heart murmur[5]

Abdomen

  • Abdominal examination of patients with ALS is usually normal.

Back

  • Back examination of patients with ALS is usually normal.

Genitourinary

  • Urinary retention is common in patients with ALS. Urological evaluation is indicated in ALS patients with prominent spasticity.[6]

Neuromuscular

  • Hyperreflexia or hyporeflexia
  • Positive Babinski bilaterally
  • Muscle rigidity
  • Proximal and distal muscle weakness bilaterally
  • Bilateral upper and lower extremity weakness
  • Abnormal gait

Extremities

Physical examination of extremities in patients with amyotrophic lateral sclerosis is usually remarkable for:[1][2][3]

  1. Lower motor neuron signs:
  2. Upper motor neuron signs:
  3. Foot drop
  4. Difficulty walking
  5. Abnormal gait patterns

References

  1. ↑ 1.0 1.1 1.2 1.3 Gordon PH (2013). "Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials". Aging Dis. 4 (5): 295–310. doi:10.14336/AD.2013.0400295. PMC 3794725. PMID 24124634.
  2. ↑ 2.0 2.1 2.2 Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF; et al. (2015). "A comprehensive review of amyotrophic lateral sclerosis". Surg Neurol Int. 6: 171. doi:10.4103/2152-7806.169561. PMC 4653353. PMID 26629397.
  3. ↑ 3.0 3.1 3.2 Goldfarb BJ, Simon SR (1984). "Gait patterns in patients with amyotrophic lateral sclerosis". Arch Phys Med Rehabil. 65 (2): 61–5. PMID 6696604.
  4. ↑ Namazi MH, Khaheshi I, Haybar H, Esmaeeli S (2014). "Cardiac failure as an unusual presentation in a patient with history of amyotrophic lateral sclerosis". Case Rep Neurol Med. 2014: 986139. doi:10.1155/2014/986139. PMC 4123615. PMID 25133001.
  5. ↑ Rosenbohm A, Schmid B, Buckert D, Rottbauer W, Kassubek J, Ludolph AC; et al. (2017). "Cardiac Findings in Amyotrophic Lateral Sclerosis: A Magnetic Resonance Imaging Study". Front Neurol. 8: 479. doi:10.3389/fneur.2017.00479. PMC 5623666. PMID 29021775.
  6. ↑ Lopes de Carvalho ML, Motta R, Battaglia MA, Brichetto G (2011). "Urinary disorders in amyotrophic lateral sclerosis subjects". Amyotroph Lateral Scler. 12 (5): 352–5. doi:10.3109/17482968.2011.574141. PMID 21506896.

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