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Neuromuscular Diseases

Differential Diagnosis and Treatment Ideas

Ashley Spiegel, SPTTexas Woman’s University

ObjectivesClinicians 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

Guillain Barre SyndromeDefinition: 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

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

Guillain Barre Syndrome: Subtypes1. 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

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

Guillain Barre Syndrome: TreatmentSpecific 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

Transverse MyelitisDefinition: 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)

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

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

Amyotrophic Lateral SclerosisDefinition: 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

Amyotrophic Lateral Sclerosis: Diagnostic Criteria4

Amyotrophic Lateral Sclerosis: TreatmentSpecific 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

Case StudiesDifferential Diagnosis

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

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)

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

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

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

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

References1. 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.

Questions or comments?