1. Neuromuscular
Diseases
Differential Diagnosis and
Treatment Ideas
Ashley Spiegel, SPT
Texas Woman’s University

2. Objectives
Clinicians will be able to...
● Understand pathology and symptoms of various neuromuscular diseases
○ GBS
○ AIDP
○ CIDP
○ TM
○ ALS
● Prescribe treatments while regarding diagnosis-specific considerations
● Differentially diagnose based on two case studies

3. Guillain Barre Syndrome
Definition: rapidly evolving, immune-mediated peripheral neuropathy preceded by a
triggering event (infection)1
Symptoms:
● Proximal weakness accompanied by tingling dysesthesias in U/LEs
○ LEs more affected than UE
● Pain
○ Shoulder girdle, back, posterior thighs
○ Most severe at night
● Hypo/areflexic
Diagnosis:
● Electrodiagnostic examination
● Absent DTRs
● Elevated protein in CSF
● Progressive weakness
● Progression of symptoms over days - 4 wks
● Cranial nerve involvement
● Autonomic dysfunction

4. Guillain Barre Syndrome: Phases
● Progressive: worsening symptoms; days - 4 wks
○ 73% reach lowest point of clinical function at 1 wk, 98% at 4 wks
○ 30% require ventilatory assistance
○ 20% mortality rate
● Plateau: persistent, unchanging symptoms; days
● Recovery: improvement in symptoms and functioning
○ 85% achieve full and functional recovery within 6-12 months
○ Maximal by 18 months past onset
○ Relapse occurs in 3-5% of pts

5. Guillain Barre Syndrome: Subtypes
1. Acute inflammatory demyelinating polyradiculopathy (AIDP)
2. Acute motor axonal neuropathy (AMAN)
3. Acute motor sensory axonal neuropathy (AMSAN)
4. Miller Fisher Syndrome
5. Acute panautonomic neuropathy

6. Chronic Inflammatory Demyelinating Polyradiculopathy
Definition: GBS/AIDP, but longer...2
● Sensory loss and weakness progress beyond 4 wks
● Not self-limiting or spontaneous - if untreated, 30% will progress to w/c
dependence

7. Guillain Barre Syndrome: Treatment
Specific treatment:
● Intravenous immunoglobulin (IVIg) or plasmapheresis
● Gabapentin for pain management
Supportive treatment:
● PT/OT/Speech3,4,5
○ Progressive phase: PROM and positioning, upright tolerance, functional training
○ Plateau: energy conservation, A-AROM and AROM exercises
○ Recovery phase: aerobic training, RROM
● Psychological stress

8. Transverse Myelitis
Definition: neurological disorder caused by inflammation across both sides of one level
of the spinal cord; often caused by viral infections, abnormal immune reactions6,7
Symptoms:
● Weakness of U/LEs depending on the level of the lesion
● Pain/sensory alteration
● Spasticity
● Hyperreflexia
● Bowel and bladder dysfunction
Diagnosis:
● MRI/CT
● Blood test (to rule out HIV, SLE, B12 deficiency)
● CSF (elevated protein and WBCs)

9. Transverse Myelitis: Treatments
Specific treatment:
● Corticosteroids
● Plasma exchange
● Pain medications
● Baclofen
● Gabapentin
Supportive treatment:
● PT/OT/Speech
○ Strength, endurance, coordination, reduce spasticity, equipment training, pressure relief
● Psychological

10. Transverse Myelitis: Prognosis
● Recovery begins 2 - 12 wks of onset, up to 2 years
○ No improvement within 3-6 months, complete recovery unlikely
● ⅓ good or full recovery
○ Normal gait pattern, minimal urinary or bowel effects and paresthesias
● ⅓ fair recovery
○ Spastic gait, sensory dysfunction, incontinence
● ⅓ no recovery at all
○ Bedridden

11. Amyotrophic Lateral Sclerosis
Definition: progressive neurodegenerative disease affecting cells in the brain and
spinal cord8,9
● Amyotrophy: “no muscle nourishment”
● Lateral sclerosis: hardness, or scarring, in the lateral columns of the spinal cord
Symptoms: gradual onset, painless, progressive muscle weakness
● Classic, spinal ALS: muscle cramps/fasciculations (initially), asymmetric muscle weakness and
atrophy
● Bulbar onset ALS: dysarthria, dysphagia, sialorrhea
● Respiratory onset ALS: respiratory failure
Diagnosis:
● Electrodiagnostic tests
● Blood and urine studies
● Spinal tap
● MRI
● Muscle/nerve biopsy
● Thorough neurological exam

12. Amyotrophic Lateral Sclerosis: Diagnostic Criteria4

13. Amyotrophic Lateral Sclerosis: Treatment
Specific treatment4
:
● Riluzole (Rilutek)
● Drugs for spasticity, fatigue, muscle cramps
Supportive treatment3,4
:
● PT/OT/Speech
○ Low impact aerobic exercise, ROM, stretching
○ Avoid vigorous exercise in later stages

14. Case Studies
Differential Diagnosis

15. Patient #1
● Female
● Mid 50s
● Symptoms:
○ LE weakness
● Eval:
○ Tone: 0
○ Clonus: 0
○ Bed mobility: max A
○ Transfers: max A
○ Gait/stairs: does not occur
● D/C: after 10 day stent in rehab
○ Bed mobility, transfers: mod I
○ Gait: 1000’ RW; ramps, curbs, unlevel surfaces
○ Stairs: 3 flights CGA

16. Patient #2
● Male
● Mid 60s
● Symptoms:
○ LE weakness → UE weakness
○ Bulbar symptoms
○ B ptosis
○ Neurogenic bladder
● Eval:
○ Strength: 2-
○ Tone: 0
○ Clonus: 0
○ Bed mobility: total A
○ Transfers: total A with mechanical lift
○ Gait/stairs: does not occur
● D/C: not yet (6 wks since hospital admisison, 19 days in rehab)

17. Differential Diagnosis: ALS
Patient #1 Presentation Typical ALS Presentation Patient #2 Presentation
Sudden onset Gradual onset Sudden onset
✓ No pain Severe pain
✓ Progressive muscle
weakness
✓
LMN only LMN + UMN signs LMN only

18. Differential Diagnosis: TM
Patient #1 Presentation Typical TM Presentation Patient #2 Presentation
✓ LE weakness U/LE weakness ✓
No pain Pain/abnormal sensation ✓
Flaccid Spasticity/hyperreflexia Flaccid
No bowel and bladder
dysfunction
Bowel and bladder
dysfunction
✓ Neurogenic bladder
Decreased signals MRI Decreased signals

19. Differential Diagnosis: GBS
Patient #1 Presentation Typical GBS Presentation Patient #2 Presentation
Stronger proximally Weaker proximally ✓
Inconsistent
hypersensitivity/ no pain
Pain/hypersensitivity at
shoulders, back, and
thighs (severe night pain)
✓
Rapid improvements
(1wk), no plateau
Progressive (4 wks),
plateau, recovery (6-12
mos)
✓ 6 wks since dx;
currently in
plateau/recovery

20. GBS/AIDP CIDP TM ALS
Preceding infection Preceding infection Autoimmune, preceding
infection
Unknown cause
Proximal > distal weakness Proximal > distal weakness Weakness in U/LEs below
level of lesion
Asymmetric muscle
weakness, fasciculations,
atrophy
Pain/hypersensitivity, esp. at
night (shoulders, back,
thighs)
Pain/hypersensitivity, esp. at
night (shoulders, back,
thighs)
Sensory alteration below
level of lesion
Hypotonicity and/or spasticity
Hypo and/or hyperreflexia
Bulbar signs (dysarthria,
dysphagia, sialorrhea)
Bulbar signs (dysarthria,
dysphagia, sialorrhea)
Bowel and bladder
dysfunction
Bulbar signs (dysarthria,
dysphagia, sialorrhea)
Progressive up to 4 wks
followed by plateau;
maximal at 18 months
Continues to progress
beyond 4 wks, not
self-limiting
Recovery within 2-12 wks;
maximal at 2 years
No recovery, no cure

21. References
1. Newswanger DL, Warren CR. Guillain-Barré Syndrome. American Family Physician. 2004;69(10):2405-2410.
http://www.aafp.org/afp/2004/0515/p2405.html. Accessed October 4, 2016.
2. All About CIDP - GBS/CIDP Foundation International. GBSCIDP Foundation International.
http://www.gbs-cidp.org/cidp/all-about-cidp/. Accessed October 4, 2016.
3. Danto A. PT Management of Other Neurological Conditions: MS, ALS, GBS, CNS Tumors. October 2016.
4. Das R. Neuromuscular Diseases. June 2015.
5. GBS/CIDP Foundation International. Guillain-Barre Syndrome, CIDP and Variants: Guidelines for Physical and
Occupational Therapy. https://www.gbs-cidp.org/wp-content/uploads/2012/01/PTOTGuidelines.pdf. Accessed
October 4, 2016.
6. Transverse Myelitis Fact Sheet. U.S National Library of Medicine.
http://www.ninds.nih.gov/disorders/transversemyelitis/detail_transversemyelitis.htm. Accessed October 4,
2016.
7. Disease Information - The Transverse Myelitis Association. The Transverse Myelitis Association.
https://myelitis.org/living-with-myelitis/disease-information/. Accessed October 4, 2016.
8. Amyotrophic Lateral Sclerosis (ALS) Fact Sheet. U.S National Library of Medicine.
http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_als.htm. Accessed October 4, 2016.
9. ALS Association. ALSA.org. http://www.alsa.org/. Accessed October 4, 2016.

22. Questions or
comments?