Cerebral Palsy and Muscular Dystrophy

Cerebral palsy

A heterogenous group of clinical syndromes with permanent motor dysfunction that range in severity - due to abnormalities of the developing fetal or infantile brain

NO!! (but may change over time)

Does cerebral palsy progress?

Muscle tone, posture, movement

Cerebral palsy produces variable dysfunction in

Spastic paralysis, no significant muscle atrophy, hyperreflexia, babinski reflex

Characteristics of a upper motor neuron deficit

Flaccid paralysis, significant atrophy, fasciculations and fibrillations, hyporeflexia,

Characteristics of a lower motor neuron deficit

2/1000 live births in the US (increases as gestational age and birth weight decreases)

Epistats for Cerebral Palsy (I speak for the data)

prematurity (most common association), perinatal hypoxia-ischemic injury, intrauterine growth restriction, intrauterine infection, antepartum hemorrhage, severe placental pathology, multiple pregnancy, No known risk factors, acquired postnatal causes (stroke, trauma, severe-hypoxic events, sepsis, meningitis, kernicterus, encephalopathies)

Multifactorial etiology of Cerebral palsy (STAR ⭐ )

Review prenatal and birth hx, family hx; assess growth, motor development, motor tone, motor control, posture, and coordination; screen for impairments (vision, hearing, attention, behavioral, communicative, cognitive deficits), look for functional limitations

Eval plan for Cerebral palsy

identify the diagnostic features, classify the type, determine if the condition is static/progressive/neurodegenerative, establish treatment goals and priorities

Goals of our amazing history and physical

Clinically (around age 2); MRI is used to r/o other conditions and determine underlying cause

How is cerebral palsy diagnosed?

permanent and nonprogressive, attributed to an insult in the fetal/infant brain, results in limitations in functional abilities and activity, is accompanied by secondary skeletal problems, epilepsy, disturbances of sensation, perception, cognition (could go either way), communication and behavior

Key features in the abnormal motor development and posture in cerebral palsy

Thyroid labs, brain MRI, EEG (seizures), lumbar puncture (if refractory seizures, movement disorders), metabolic/genetic testing

Work up for Cerebral palsy to r/o other stuff

hypoxic-ischemic lesions, cortical malformation, basal ganglia lesion

Common brain MRI findings in Cerebral palsy

atypical symptoms, brain malformation on MRI, no etiology determined by hx and physical

Metabolic/genetic testing is indicated in cerebral palsy IF

abnormal behavior (excessive docility/irritability), abnormal tone, abnormal posture, persistence of primitive reflexes, failure to achieve motor milestones

Clues to an early diagnosis of cerebral palsy (may be difficult to classify before 5)

Spastic biplegia (more commonly lower), spastic hemiplegia, spastic quadriplegia

Spastic syndromes of Cerebral palsy

increased tone, contractures (tight/stiff muscles), hypertonia, scissor gait, toe walk

Signs of spastic cerebral palsy

Dyskinetic (athetoid)

Damage to the basal ganglia (initiates and terminates movement) is characteristic of what classification of cerebral palsy?

random slowed uncontrolled movement of the limbs/trunk (dystonia), random “dance-like” movement that moves from muscle to muscle

Signs of Dyskinetic Cerebral palsy

Ataxic cerebral palsy

Which classification of cerebral palsy is characterized by shaky and uncoordinated movements (ataxia), widespread disorder of motor functions, and is pretty rare?

clumsy unstable movements, poor balance and coordination while walking/grasping objects

Signs of ataxic cerebral palsy

tight muscles, stiff joints, abnormal postures, sleep disorders, eating difficulties (preparing, chewing, swallowing), speech, vision, learning disability

Issues common to all types of cerebral palsy

Neurology, ortho, OT, PT, Speech therapy

Management team for cerebral palsy

social and emotional development, communication, nutrition, mobility, goal of maximizing independance in ADLs

Managing Cerebral palsy requires a multidisciplinary team to address all needs to promote the child’s…

Most survive to adulthood, mortality rate is affected by the aggressiveness/quality of care

Prognosis of Cerebral Palsy

Aspiration pneumonia

Most common cause of death in cerebral palsy

Muscular dystrophy

An inherited X-linked recessive group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function (2/10,000)

Duchenne (most severe, can cause dilated cardiomyopathy), Becker (similar to Duchenne, but milder and later onset)

Subtypes of Muscular dystrophy

Dystrophin

A stabilizing component of glycoprotein complex located on the plasma membrane muscle fibers that is absence in Duchenne and altered in Beckers - leads to muscle wasting and weakness

Weakness (primary symptom - usually diagnosed by 5), waddling gait, lumbar lordosis, calf enlargement, leg pain, Dilated Cardiomyopathy (found in ALL Duchenne’s patients over 18), frequent arm/leg fractures due to falls, hyporeflexia/areflexia

Presentation of Muscular Dystrophy

using hands to push into an upright position when getting up from the floor

Describe the Gower’s sign in muscular dystrophy

Later onset (patients are typically ambulatory before 15), intellectual disability (not as common or severe), cardiac involvement is more evident

Presentation of Becker’s Muscular dystrophy (BMD)

Dilated Cardiomyopathy (found in ALL Duchenne’s patients over 18, looks like CHF), progressive scoliosis (can impair pulmonary function),

Presentation of Duchenne Muscular dystrophy (DMD)

Men progress more rapidly (starts at 20-40), Women progress over 10 years

Progression of Dilated Cardiomyopathy in DMD

Genetic testing (amniocentesis in prenatal), symptomatic female carriers (muscle weakness, elevated Serum CK)

How are carriers of muscular dystrophy detected?

Characteristic age and sex, symptoms/signs suggestive of myopathic process, markedly increased CK, myopathic changes on EMG, positive family hx

Diagnosis of Muscular Dystrophy is based on

10-20x (DMD), 2-3x (BMD/female carriers)

What does the CK look like in Muscular Dystrophy

myopathic changes WITHOUT nerve conduction abnormalities

EMG findings in Muscular Dystrophy

genetic testing (confirmed with a mutated dystrophin gene, can be done at 12 weeks or a muscle biopsy)

If we find an elevated CK we move to…

degeneration/regeneration, isolated opaque hypertrophic fibers, replacement of muscle by fat and connective tissue

Findings on a muscle biopsy for Muscular Dystrophy

Onset of proximal weakness by age 5, loss of unassisted walking by 13, 10x+ elevation of CK, absent/almost no dystrophin on biopsy, Duchenne-type mutation

Muscular Dystrophies - European Neuromuscular Centre Criteria

confined to wheelchair by ~12, die in late teens/twenties from respiratory insufficiency or cardiomyopathy

Clinical course of DMD

Can be ambulatory well into adult life, usually survive beyond 30 but die in their mid-40s due to dilated cardiomyopathy

Clinical course of BMD

Prednisone, Vitamin D/Calcium (if deficient), monitor weight, and cognitive for impairment

Treatment plan for Muscular Dystrophy

Echo/cardiac MRI (in boys at age 10 - repeat every 6-12 months, female carriers at teenage years), ACEI/beta blockers (if ventricular dysfunction on imaging), diuretics/digoxin → transplant (over HF), PT, pediatric pulmonology (yearly prior to wheelchair, then 2x, tracheostomy), Monitor for scoliosis

Management plan for Muscular Dystrophy

Loss of ambulation (9.4 y/o), electric wheelchair dependent (14.6 y/o), assistance needed for eating and drinking (18.2 y/o), assisted ventilation (19.8 y/o)

DMD prognosis

Ambulatory into adult life (mean age of death is mid-40s)

BMD prognosis

Long-term steroids, advances in respiratory care

Survival, function, and QoL of Muscular Dystrophy patients is improving due to

advanced planning with palliative and end-of-life issues guided by patient preference

All Muscular Dystrophy patients should have