Dr. Athal Humo 2016

Floppy infant refers to those children presenting with generalized hypotonia, most often arising out of an insult occurred during fetal or neonatal period.

Presenting Feature Hypotonia ▪ Abnormal posture ▪ Diminished resistance to passive movement & abnormal range of joint movement Delay in motor milestone

Posture frog The floppy infant assumes a frog legged position. rag doll On ventral suspension, the baby can not maintain limb posture against gravity and assumes the position of a rag doll.

Movements The muscles appear flabby. There is diminished resistance to passive movement of the limbs and the range of movement of the peripheral joints is increased. Scarf Sign: Put the child in a supine position and hold one of the infant’s hands. Try to put it around the neck as far as possible around the opposite shoulder. Observe how far the elbow goes across the body. In a floppy infant, the elbow easily crosses the midline.

Pull to sit lags When pulled up from the supine to the sitting position, the head of the baby lags. Delay in motor milestone

I. Hx. : Prenatal: infection,movement of fetus in utero, drug intake by mother during pregnancy or labour e.g. Mg sulfate, benzodiazepines, anasthesia. Perinatal: birth injury, asphyxia. Postnatal: prematurity, fit, jaundice, CNS infection. II. Examination :  General:  General: dymorphic features(Down), HSM, observe the strength of crying, eye for cataract.  CNS: - Awareness of the baby: bright eyes, follow object, smile  cortical intact. - Light response, response to bell & tactile. - Gag & corneal reflex. - Position of the limbs. - Reflexes. Approach to Neonatal Immobility:

If the clinical exam. doesn't settle the question then EEG will be helpful EEG Sever slowing of EEG Normal EEG Cerebral disease Spinal cord dis. or neuromuscular dis.

Floppy Baby FB + major weakness FB without major weakness Awareness intact Awareness not intact

 Floppy baby with weakness: ☹ Awareness not intact (central depression):  Severe brain illness:  Severe brain illness: as infection,metabolic…  Intoxication through mother:  Intoxication through mother: as barbiturate, general anasthesia…  Metabolic abnormalities:  Metabolic abnormalities: as hypoglycemia, kernicterus… Characterized by: Baby not alert. Normal or increase DTR. Weak cry. +/- seizure. ☺ Awareness Intact: Spinal cord lesion : Spinal cord lesion : as tumor, trauma, infection, malformation... Anterior horn cell disease: Anterior horn cell disease: as SMA, polio … Peripheral neuropathy: Peripheral neuropathy: as GBS, toxins as lead, drugs… Neuromuscular junction: Neuromuscular junction: as mysthenia gravis, botulism, aminoglycoside. Muscle disease: Muscle disease: as congenital muscle dystrophy, GSD…

 Floppy baby with no weakness: Characterized by: They appear to move well if they are supine but floppy when handled in prone position. They will be like inverted U- shape. Delay mile stones.  Acute systemic illness.  Mental retardation: as  Down syndrome( a)  Prader-willi syndrome(b)  Connective tissue disorder:  Ehlers-Danlos syndrome  Marfan syndrome Look for Sepsis

 Nutritional-metabolic disease:  Rickets  Celiac disease  Benign congenital hypotonia:  Exhibit the condition at 6-12 months.  Delayed gross motor milestone.  Normal social, intelligence, fine motor movement.  Head lag, slip-through ventral suspension.  Complete lab. investigation are necessary, it is often unrevealing.  Most of children become normal by 3 yrs.  F.Hx. often +ve.

Investigation SERUM ENZYMES : SERUM ENZYMES : The CK level is characteristically elevated in certain diseases, such as Duchenne muscular dystrophy, and the magnitude of increase is characteristic for particular diseases. MOLECULAR GENETIC MARKERS: MOLECULAR GENETIC MARKERS: Many DNA markers of hereditary myopathies and neuropathies are available from blood samples. NERVE CONDUCTION VELOCITY (NCV). NERVE CONDUCTION VELOCITY (NCV). ELECTROMYOGRAPHY (EMG): ELECTROMYOGRAPHY (EMG): Characteristic EMG patterns distinguish denervation from myopathic involvement. IMAGING OF MUSCLE IMAGING OF MUSCLE : Imaging of muscle using ultrasonography, CT scans, and MRI are used in many neuromuscular diseases. MUSCLE BIOPSY MUSCLE BIOPSY : The muscle biopsy is the most important and specific diagnostic study of most neuromuscular disorders. NERVE BIOPSY. NERVE BIOPSY. TEST OF IEM TEST OF IEM (serum & urine chromatography) PHYSOSTIGMINE TEST. PHYSOSTIGMINE TEST. ELECTROCARDIOGRAPHY (ECG): ELECTROCARDIOGRAPHY (ECG): Cardiac evaluation is important if myopathy is suspected because of involvement of the heart in muscular dystrophies and in inflammatory and metabolic myopathies.

Ataxia is the inability to make smooth, accurate, and coordinated movements, It is either acute or chronic. ☻ Usual symptoms are broad-based unsteady gait & tremor, that worsen by intentional movement of limbs (dysmetria). ☻ Defect in:  Cerebellum and cerebellar pathways.  PN lesion causing loss of proprioception.  Bilateral frontal lobe lesions

Etiology of acute ataxia:  Post infectious :  Post infectious : direct viral or autoimune as chickenpox, infectious mononucleosis,URTI.  Drug intoxication :  Drug intoxication : as carbamazepine, phenytoin, alcohol..  Tumors of posterior fossa:  Tumors of posterior fossa: medulloblastoma, ependymoma.  Hydrocephalus.  IEM:  IEM: urea cycle defect, maple syrup urine.  Labyrinthine dysfunction.  GBS.

Movement Disorders Movement disorders or dyskinesias include abnormal excessive, exaggerated, chaotic, or explosive movements of voluntary muscles. They are generally the result of abnormalities of the extrapyramidal system or the basal ganglia and its connections. Symptoms may be one of two types: Bradykinesia and hypokinesia: describe the slow gait, halting speech patterns, apparent inactivity, and paucity of facial expression. Hyperkinetic: excessive involuntary movement that are activated by stress and fatigue and often disappear in sleep as chorea, athetosis, tremor…