Pediatric Motor

disturbance
About Children who trip and
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 Development

Newborn

5 months

7 months

10-11 mo

Newborn

6 weeks

3 months
(12 weeks)

5 months

6 months

5 months

6 months

7 months

4 months

6 months

5 months
7 months

5 months
4 months

6 months

7 mo

8 mo

9 mo

10 mo

Verticalization

11 mo

7 months

8 months

9th months

Verticalization stepping forward

upright posture, first loading
predominantly the medial edges of the feet

9 10 months

10-11 months

PHENOMENOLOGY
Gross motor clumsiness
Fine motor clumsiness
Abnormal movements
Abnormal posture and gait
Muscular weakness
Hypotonia or Spasticity

LOCALIZATION
CENTRAL MOTOR NEURON
CORTEX
CORTICO-SPINAL

TRACTS

PERIPHERAL Motor Neuron

ANTERIOR-HORN

Cells
Motor Roots and Peripheral Nerves
Neuro-Muscular Junction
Muscles

ETIOLOGY
Static Dysfunction
cerebral

palsy

Trauma
Acute

Infection , Toxicity

CVA

Progressive Condition
Metabolic,

Genetic
Autoimmine
Chronic 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
Downs Syndrome
21 translocation, deletion, mosaicism
Prader-Willi Syndrome 5 (q11-13) deletion
HHHH: -Hypotonia,
-Hypogonadism,
-Hypomentia;
Hypo Hyperphagia
Small Hands and Feet
Microcephaly, Short Stature
Congenital 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

Right Tibi

Ankle 100.0mA
O

P
R
O

Right Perone

Poplit 100.0mA

0.53 mV [>3.0]
43.75 m/s [>41.0]

Amp:
Vel:

Ankle 100.0mA

P
R

Fib Hed 100.0mA

O
T

Amp:
Vel:

0.18 mV [>2.5]
43.0 m/s [>40]

EMG - Left

EMG - Left Gas

100

2

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
Development
Chronic Presentation
Subcompensated course
Gowers Sign
Toe Walking
car accident

BILATERAL Toe Walking

Idiopathic Toe Walking (Achilles Shortening)
Spastic Diplegia
Peripheral Neuropathy (CMT)
Myscular Dystrophy (Duchenne)
Cutaneous calcinosis (in dermatomyositis)
Spinal Cord Anomaly
Juvenile MS
Dystonia
Mannerism, as one of the autistic traits

UNILATERAL Toe Walking

Dystonia
Spastic Hemiparesis
Local Conditions:
Achilles

Tendonitis, Calf Hemangioma

Linear Scleroderma

Conversion reaction

Work Up for Toe Walking

Gait Analysis
Measurement of Ankle Dorsiflexion
Brain Imaging
Thoraco-lumbar Spine Imaging
Nerve Conduction Studies, EMG

Ataxia

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
Gowers Sign:

Muscle Weakness
Gowers Sign:
Paretic Gait:

Muscle Weakness
Gowers Sign
Reflex abnormalities
Tone Abnormalities:

Muscle Weakness
Gowers Sign
Reflex abnormalities
Tone Abnormalities
Muscle Deformities:

Muscle Phenomena
Myotonia:

Muscle Phenomena
Myotonia:

Differential Muscle Disease

Anterior Horn Disease (Spinal Muscular
Atrophy)
Polyradiculoneuropathies
Acute (Guillain-Barre)
Chronic (CIDP)

Neuropathies
Myopathy
Muscular Dystrophies
Myasthenia

Muscle Disease Evaluation

History, 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 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;