Pediatric Motor disturbance

About Children who trip and About Children who trip and stumble stumble . . .

Common Patterns

Toe walking

Common Patterns

Toe Walking

Clumsiness, Stumbling and Tripping

Common Patterns

Hypotonia

Common Patterns

Clumsiness, Stumbling and Tripping

Toe walking

Hypotonia

Imbalance

Common Patterns

Clumsiness, Stumbling and Tripping

Toe walking

Imbalance

Hypotonia

Peculiar walking patterns

Common Patterns

Clumsiness, Stumbling and Tripping

Toe walking

Imbalance

Hypotonia

Peculiar movements

Weakness

Common Patterns

Clumsiness, Stumbling and Tripping

Toe walking

Imbalance

Peculiar movements

Weakness

Deformities

Common Patterns

Clumsiness, Stumbling and Tripping

Toe walking

Imbalance

Peculiar movements

Weakness

Deformities

Very Peculiar Signs

Motor DevelopmentMotor Development

NewbornNewborn

5 months5 months

7 months7 months

10-11 mo10-11 mo

Newborn

6 weeks

3 months(12 weeks)

5 months5 months

6 months6 months

5 months

6 months

7 months7 months

4 months5 months

6 months7 months

4 months

6 months

5 months

Verticalization

7 mo7 mo 8 mo8 mo 9 mo9 mo 10 mo10 mo 11 mo11 mo

7 months7 months

8 months8 months

9th months

Verticalization – stepping forward – upright posture, first loading predominantly the medial edges of the feet

9 – 10 months 9 – 10 months 10-11 months10-11 months

PHENOMENOLOGY

Gross motor clumsiness

Fine motor clumsiness

Abnormal movements

Abnormal posture and gait

Muscular weakness

Hypotonia or Spasticity

LOCALIZATIONCENTRAL MOTOR NEURONCORTEXCORTICO-SPINAL TRACTS

PERIPHERAL Motor NeuronANTERIOR-HORN CellsMotor Roots and Peripheral NervesNeuro-Muscular JunctionMuscles

ETIOLOGYStatic Dysfunction cerebral palsyTraumaAcute Infection , ToxicityCVA

Progressive ConditionMetabolic, GeneticAutoimmineChronic Infection

Hypotonia

CENTRAL

PERIPHERAL

CEREBRAL HYPOTONIA

Encephalopathy present !

      Change in Alertness and Activity

  Seizures   *Cognitive Delay

Signs of Upper Motor Neuron Disease:

  Reflexes Increased

  Pathologic reflexes

  Persistence of Primitive Reflexes

Motor Delay

Functional Asymmetry

Progression to Spasticity  

PERIPHERAL HYPOTONIA Normal Brain Functions   Signs of Lower Motor Neuron Disease:Reflexes Depressed (Myopathy) of Absent Signs of Denervation of Muscles: Amyotrophy,

Fasciculations    Low Tone in Extremities            No Spasticity             Pathologic reflexes Absent          Decreased Movements and Postural Reactions NO Functional Asymmetry Electrophysiologic Findings                 Fibrillation Potentials      Abnormal Nerve Conduction

CEREBRAL SYNDROMES

Benign Hypotonia of Infancy (Common, Self-limited)

Hypotonia of the Prematurity

Hypoxic Ischemic Encephalopathy

Encephalopathic Syndromes

GENETIC SYNDROMES

Down’s Syndrome 21 translocation, deletion, mosaicism

Prader-Willi Syndrome 5 (q11-13) deletion “HHHH”: -Hypotonia,

-Hypogonadism, -Hypomentia; Hypo HyperphagiaSmall Hands and FeetMicrocephaly, Short StatureCongenital Hip Dislocation  

Work Up:    Imaging studies

Nerve Conduction Studies and EMG

EEG

Laboratory Studies: CPK;  SGOT/SGPT Screening Tests; Amino Acids and Organic Acids; Long Chain Fatty Acids; Lactate and Pyruvate; Chromosomal DNA testing

Muscle and/or Nerve Biopsy

5 (ms)

Right Tibial Motor

O

P

TR

Ankle 100.0mA

O

P

T

R Poplit 100.0mA

200 (µV) 5 (ms)

Right Peroneal Motor

O

P

TR

Ankle 100.0mA

O

P

T

R Fib Hed 100.0mA

Amp: 0.53 mV [>3.0] Vel: 43.75 m/s [>41.0]

Amp: 0.18 mV [>2.5] Vel: 43.0 m/s [>40]

1000 (µV) 20 (ms)

EMG - Left Tib Ant

200 (µV) 10 (ms)

EMG - Left Gastrocnem

Mental Deficiency (improved after change in custodial caretakers)

Dysmorphic Features

Hypotonia, H/o clubbed feet

Posture and Gait Abnormality

Distal Legs Wasting:

Work Up:

Brain Imaging

Cervical Imaging (r/o syrinx)

EMG and Nerve Conduction Studies:

rule out congenital neuropathy, muscular dystrophy, myopathy.

Normal Cognitive DevelopmentChronic Presentation“Subcompensated” courseGower’s SignToe Walking“car accident”

BILATERAL Toe Walking

Idiopathic Toe Walking (Achilles Shortening)

Spastic DiplegiaPeripheral Neuropathy (CMT)Myscular Dystrophy (Duchenne)Cutaneous calcinosis (in dermatomyositis)Spinal Cord Anomaly Juvenile MSDystoniaMannerism, as one of the autistic traits

UNILATERAL Toe Walking

Dystonia

Spastic Hemiparesis

Local Conditions:Achilles Tendonitis, Calf HemangiomaLinear Scleroderma

Conversion reaction

Work Up for Toe Walking

Gait Analysis

Measurement of Ankle Dorsiflexion

Brain Imaging

Thoraco-lumbar Spine Imaging

Nerve Conduction Studies, EMG

AtaxiaAtaxia

Ataxia Differential:

Brain Abnormalities: Leukodystrophies (Krabbe) Cerebellar Frontal

Posterior Columns

Spino-Cerebellar Ataxias

Ataxia-Telangiectasia

Neuropathies

Postinfectious (Varicella Cerebellitis)

Autoimmune (Miller-Fisher Variant of GBS)

Ataxia Work Up:

Brain Imaging

Metabolic Studies

Genetic Studies

Spinal Tap

Nerve Conduction Studies

MUSCLE

DISEASE

Muscle Weakness

Gower’s Sign:

Muscle Weakness

Gower’s Sign:

Paretic Gait:

Muscle Weakness

Gower’s Sign

Reflex abnormalities

Tone Abnormalities:

Muscle Weakness

Gower’s Sign

Reflex abnormalities

Tone Abnormalities

Muscle Deformities:

Muscle Phenomena

Myotonia:

Muscle Phenomena

Myotonia:

Differential Muscle DiseaseAnterior Horn Disease (Spinal Muscular Atrophy)

Polyradiculoneuropathies Acute (Guillain-Barre) Chronic (CIDP)

Neuropathies

Myopathy

Muscular Dystrophies

Myasthenia

Muscle Disease EvaluationHistory, presentation…

Clinical Appearance

Examination

Nerve Conduction Studies, EMG

Muscle / Nerve Biopsy

Genetic Testing (Duchenne, Myotonic Dystrophy, CMT, SCD..)

Labs: electrolytes, CPK, SGOT/SGPT; TFT; carnitine levels, antibodies analysis

EMG, Nerve Conduction Data

Low amplitudes

Slowing of conduction velocities

Prolonged Latencies

Fibrillation potentials, positive waves

Decreased recruitment

Pathological patterns

Myotonic DystrophyMyotonic Dystrophy

Dystonia Differential:Degenerative Encephalopathies: Pelizaeus-Merzbacher Lesch-Nyhan Infantile seroid lipofuscinosis Niemann-Pick Mitochondrial diseases

Genetic Syndromes Idiopathic generalized dystonia Dystonia-Plus: DOPA-responsive

Metabolic Syndromes Biotinidase deficiency, Methylmalonic aciduria, Glutaric aciduria Pediatric neurotransmitters deficiencies

Bilirubin Encephalopathy Potentially Treatable

-Glucose transporter deficiency; Biotin Deficiency; DOPA-responsive, Homocystinuria; Wilson's D-se;