S3L3_Motor Neuron & NMJ Disorders

UMN Signs 

• Spastic

• Hyperreflexia 

• Disuse atrophy 

• No fasciculations 

LMN Signs 

• Flaccid

• Areflexia / hyporeflexia

• Primary atrophy

• Fasciculations

Amyotrophic Lateral Sclerosis AKA

Lou Gehrig’s Disease

Most common adult motor neuron disease

Amyotrophic Lateral Sclerosis

ALS: __ progressive, neurodegenerative disease

Rapidly

UMN/LMN? ALS:

Both

ALS: Findings

• UMN findings

• LMN findings

• Bulbar findings

ALS: Findings: UMN findings

1. Spasticity

2. Hyperreflexia

3. Presence of pathologic reflexes

ALS: Findings: LMN findings

1. M. weakness

2. M. atrophy

3. Fasciculations

4. M. cramping

5. Abdominal cramps or other trunk m.s

ALS: Findings: Bulbar Findings

1. Spastic dysarthria (UMN)

2. Flaccid Dysarthria (LMN)

3. Dysphagia

4. Pseudobulbar affect

5. Early & Late signs of respiratory dysfunction

Phenomenon characterized by wt. loss d/t mm atrophy & reduced caloric intake

ALS CACHEXIA

ALS: Findings: Gold standard used to dx UMN pathology

Presence of pathologic reflexes

ALS: Findings: RED FLAG urging the clinician to consider dx of ALS

Abdominal cramps or other trunk m.s

Hierarchy of initial symptoms

1. Leg weakness

2. Arm weakness

3. Bulbar involvement: dysarthria, dysphagia, drooling, & aspiration

4. Generalized weakness

Hierarchy of initial symptoms: Generalized weakness: Presence of focal weakness, rarely __ warrant evaluation

generalized weakness & fasciculations

Hierarchy of initial symptoms: Generalized weakness: __ is a very prominent feature

Fasciculation

Hierarchy of initial symptoms: Insidious & develop __

Slowly

Normal: Intact:

1. Mental status

2. Sensory Cranial Nerve function

3. Sensation / Sensory examination

4. Cerebellar Examinations

5. CN 3,4,6

6. Onufrowicz nucleus

7. Spinocerebellar tracts

Normal: Intact: Onufrowicz nucleus: For __

Bladder & bowel mvt.

Epidemiology: M/F

•  M>F

  • In classic ALS

  • In F, it usually leads to POOR prognosis

Epidemiology: Age of onset:

• Mean

• Rare cases

58 y/o

Adolescence

Epidemiology: Bulbar sx = __prognosis

worse

Epidemiology: Inc. risks acc to studies:

• Cig. smoker; 3 folds for current smokers > alcohol drinkers

• Inc. dietary fat intake (dietary fiber intake - dec. risk)

• Glutamate intake

Variants

1. Progressive Lateral Sclerosis / Primary Lateral Sclerosis

2. Progressive Bulbar Palsy

3. Progressive Muscular Atrophy

4. Hereditary Spastic Paraplegia

5. Tropical Spastic Paresis

Variants: __: Involves CST, spares LMN & mostly spinal (Affects corticospinal tracts)

Progressive Lateral Sclerosis / Primary Lateral Sclerosis

Variants: __: Rarely bulbar

Progressive Lateral Sclerosis / Primary Lateral Sclerosis

Variants: Progressive Lateral Sclerosis / Primary Lateral Sclerosis: Initial sx:

Spasticity → hyperactive reflexes & babinski & hoffman’s, detrusor hyperactivity

Variants: __: Involves CST & DCML (mild - moderate)

Hereditary Spastic Paraplegia

Variants: Hereditary Spastic Paraplegia: Presentation: 

PHIL

○ Progressive spasticity

○ Hypertonic urinary bladder

○ Impaired vibration sense

○ LE weakness

Variants: Tropical Spastic Paraparesis: Endemic in

Carribean area

Southern japan

Equatorial africa

South africa

South america

Variants: Tropical Spastic Paraparesis: Presentation

COP

• Cerebellar ataxia

• Optic atrophy

• Polyneuropathy

Variants: Tropical Spastic Paraparesis: Definitive dx:

(+) serology in blood or CSF

Variants: __: Loss or chromatolysis of motor neurons of the SC & brainstem

Progressive Muscular Atrophy

Variants: __: Affects the AHC

Progressive Muscular Atrophy

Variants: Progressive Muscular Atrophy: Presentation

Distal leg weakness c atrophy (UE>LE)

Variants: Progressive Muscular Atrophy: Bulbar sx

Not present initially

Variants: Progressive Bulbar Palsy: Degeneration of

CN 9 & 10

Variants: Progressive Bulbar Palsy: Presentation:

• Dysphagia

• Dec gag reflex

• Weakness of palatal mvt.s

• Facial & tongue fasciculation

Variants: Progressive Bulbar Palsy: Usual cause of death

Pneumonia

• Could be d/t diff to aspirate or swallow

El Escorial Criteria

Review pic

Poor Prognosticating Factors

O BSMM W 

• Older age at time of onset, >40-60 y/o

• Bulbar &/or pulmonary dysfunction early

• Short time period fr. sx onset to dx

• More of LMN findings at the time of DX

• More bulbar sx

• Women

The gold standard outcome for ALS trials currently remain survival

Outcome Measure

ALS Cure

None

Outcome Measure:

1. To maximize func’al capacities

2. Prolong / maintain indep. func. & locomotion

3. Prevent physical deformity

4. Provide access to full community integration c good QoL

Pharmacologic Intervention

Riluzole

• Slows progression of disease

• 100 mg qd

Clinical Problems & Treatment Paradigm

• Weakness

• Fatigue

• Respiratory Involvement

• Others

Clinical Problems & Treatment Paradigm: __: Sine qua non of all adult MND and is the ultimate cause of majority of clinical problems

Weakness

Clinical Problems & Treatment Paradigm: Weakness: Slowly Progressive Neuromuscular Diseases:

• __ resistance (__ of maximum __ force) exercise program

• Resulted in strength gains ranging from __ without any notable deleterious effects

• 12 wk moderate (30%; isometric)

• 4% to 20%

Clinical Problems & Treatment Paradigm: Weakness: Slowly Progressive Neuromuscular Diseases:

• Pts should be advised not to exercise to __, which can produce more __

• Exhaustion

• M. damage & dysfunction

Clinical Problems & Treatment Paradigm: Weakness: Signs of Overexhaustion

• Feeling weaker rather than stronger w/i 30 mins post exercise

• Excessive m. soreness 24-48 hrs ff. Exercise (DOMS)

Clinical Problems & Treatment Paradigm: Weakness: Signs of Overexhaustion: Other warning signs incl:

• Severe m. cramping

• Heaviness in extremities

• Prolonged SOB

Clinical Problems & Treatment Paradigm: Weakness & fatigue: __: Beneficial effect on mood, psychological well-being, appetite, & sleep

Aerobic Training

Clinical Problems & Treatment Paradigm: Weakness & fatigue:

• Aerobic exercise not only improves physical func’ing but is beneficial in fighting __

Depression & imp pain tolerance

Clinical Problems & Treatment Paradigm: Weakness & fatigue: Aerobic Training: Ideal place for pts c ALS to do aerobic

Pool Therapy

Clinical Problems & Treatment Paradigm: Weakness & fatigue: Aerobic Training: Pool Therapy: Conditions

• Water at midchest height

• Best done in a therapy pool c a flat, uniform depth floor

• Heated to 92°F - 95°F

Clinical Problems & Treatment Paradigm: Weakness & fatigue: Aerobic Training: Pool Therapy: Conditions: 

• The warmth of the water will help __

Reduce spasticity & facilitate mvt

Clinical Problems & Treatment Paradigm: Weakness & fatigue: Other Interventions

Low impact aerobic exercise

Clinical Problems & Treatment Paradigm: Weakness & fatigue: Other Interventions: Low impact aerobic exercise:

• __ to improve CV performance & inc m. efficiency = help fight __

Walking or stationary bicycling

Fatigue

Clinical Problems & Treatment Paradigm: Respiratory Involvement: ALS affects all of the __ of the mechanical respiratory sys.

Major m. groups

Clinical Problems & Treatment Paradigm: Respiratory Involvement: ALS affects all of the major m. groups of the mechanical respiratory sys: 

1. Upper airway m.s

2. Expiratory & inspiratory m.s

Clinical Problems & Treatment Paradigm: Respiratory Involvement: ALS affects all of the major m. groups of the mechanical respiratory sys: 

• Upper airway m.s =

• Expiratory m.s =

• Inspiratory m.s =

• Abnormal swallowing & cough

• Inadequate cough

• Inadequate maintenance of ventilation

Clinical Problems & Treatment Paradigm: Respiratory Involvement: It is Important to Teach pts c ALS:

• Diaphragmatic breathing

• Other respiratory techniques

Clinical Problems & Treatment Paradigm: Others:

• Dysphagia spasticity

• Depression

• Pain

• Immobility-prolonged

• W/c user

Clinical Problems & Treatment Paradigm: Others: Pain

Use heat, cold, electrical modalities

Clinical Problems & Treatment Paradigm: Others: Immobility Prolonged

Use of pressure relief techniques

Criteria for Hospice Admission in ALS: This is appropriate when

• Overall rapid progression of ALS (critical factor

  • Ex. disability progressed significantly in the past 12 mos 

  • Pt/family desires no further aggressive tx or cardiopulmonary resuscitation 

Criteria for Hospice Admission in ALS: In addition, at least one of the following must also apply

1. Inc respiratory distress

2. Severely impaired nutrition 

3. Life threatening complications 

Criteria for Hospice Admission in ALS: In addition, at least one of the following must also apply: Inc respiratory distress

• Vital capacity less than 30% of predicted 

• Significant dyspnea at rest

• Supplemental oxygen required at rest

• Pt has refused intubation, tracheostomy, & mech ventilation

Criteria for Hospice Admission in ALS: In addition, at least one of the following must also apply: Severely impaired nutrition

• Tube feeding not elected or discontinued 

• Oral intake insufficient / dysphagia 

• Continued weight loss in spite of tube feedings 

• Dehydration or hypovolemia 

Criteria for Hospice Admission in ALS: In addition, at least one of the following must also apply: Life threatening complications 

• Recurrent aspiration pneumonia 

• Decubitus ulcers, multiple, stage 3-4, particularly if infected

• Upper UTI, e.g. pyelonephritis

• Sepsis

• Fever recurrent after antibiotics

LMN Disease: SMA: Causing degen. of the __ = __ of skeletal m.s

Motor neurons

Weakness & atrophy

LMN Disease: SMA: Clinical features 

• Prox. > Dist. Weakness

• Hypo/areflexia, fasciculations of the tongue & other m.s

• Hand tremor

• Normal sensory n. conduction studies & neurogenic changes on EMG

LMN Disease: SMA: Types

SMAI-IV

LMN Disease: SMA: Types: SMA I: Aka

Werdnig Hoffman

Acute Infantile

LMN Disease: SMA: Types: SMA II: Aka

Werdnig Hoffman

Chronic Infantile

LMN Disease: SMA: Types: SMA III: Aka

Kugelberg- Welander

Chronic Juvenile

LMN Disease: SMA: Types: SMA IV: Aka

Adult Onset

LMN Disease: SMA: Types: SMA I: Onset

Birth - 6 mo.s

LMN Disease: SMA: Types: SMA II: Onset

6-18 mos 

LMN Disease: SMA: Types: SMA III: Onset

18 mos (5-15 yrs) 

LMN Disease: SMA: Types: SMA IV: Onset

Mean onset: Mid 30s

LMN Disease: SMA: Types: SMA I: Natural History

• Unable to sit indep

• Poor survival (Often death before 2 yrs)

LMN Disease: SMA: Types: SMA II: Natural History

• Sits indep 

• No indep amb 

• Over 50% survive to mid 20s

LMN Disease: SMA: Types: SMA III: Natural History

• Ambs indep 

• Normal survival 

LMN Disease: SMA: Types: SMA IV: Natural History

• Normal survival 

LMN Disease: SMA: Types: __: Cos of tech, pts live longer but ultimately still die

SMA I

LMN Disease: SMA: Types: __: Relies on specialized w/c & CGs for locomotion

SMA II

LMN Disease: SMA: Types: __: Sx become apparent 5-16 years of age

SMA III

LMN Disease: Hereditary Sensory Motor Neuropathy: Hallmark presentation of

Peroneal & dist. leg atrophy

Areflexia

Weakness

Sensory loss

LMN Disease: Hereditary Sensory Motor Neuropathy: Weakness is common to __ types

ALL

LMN Disease: Hereditary Sensory Motor Neuropathy: Types

I-VII

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: HSMN I: Aka

Charcot Marie Tooth Disease Ia

Charcot Marie Tooth Disease Ib

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: __: Chromosome 17

HSMN Ia

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: __: Chromosome 1

HSMN Ib

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: HSMN I: Common deformity

Champagne leg

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: HSMN II: Aka

Charcot Marie Tooth Disease

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: __: Lesser hypertrophic change in myelin c more neuronal or axonal involvement than those seen in CMT type 1

HSMN II 

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: HSMN III: Aka

Dejerine Sottas Disease

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: __: Most common

HSMN III (Dejerine Sottas)

LMN Disease: Hereditary Sensory Motor Neuropathy: Types: SMA III: Affects

Sural nerve