This action might not be possible to undo. Are you sure you want to continue?
ALAN HILL, MD, PHD
Hypotonia in the newborn is a common presenting feature of systemic illness or neurologic dysfunction at any level of the central or peripheral nervous system. In this chapter, the clinical assessment of muscle tone is reviewed as well as the differential diagnosis of hypotonia in the newborn, focusing on clinical features and appropriate diagnostic investigations.
Hypotonia in the newborn, which manifests as a “ﬂoppy infant,” is a common clinical sign that may reﬂect underlying systemic illness or neurologic dysfunction at any level of the central or peripheral nervous system. This chapter focuses on aspects of the clinical assessment of muscle tone and the differential diagnosis of hypotonia that are unique to newborns.
response to passive manipulation at various gestational ages is summarized in Table 81-1.
Resting posture in a newborn is best observed when the infant is quiet, in a slightly drowsy state, with the head positioned in the midline to minimize any inﬂuence on the primary developmental reﬂexes. Preferential postures are more difﬁcult to ascertain in premature newborns or when the infant is fully alert and exhibits a higher level of activity. The hypotonic term newborn has a characteristic “frogleg” appearance when lying supine, with decreased spontaneous movements, abduction of the hips, and either extension of the arms or ﬂexion at the elbows, with the hands resting beside the head. Interestingly, there is a distinct difference in the resting posture between infants born at term and those born prematurely but who have reached a postconceptional age of 40 weeks, in that infants born prematurely have less arm and leg ﬂexion. Thus, a posture characterized by strongly ﬂexed arms with or without extension of the legs in this latter group is suggestive of neurologic dysfunction. Several nonneurologic abnormalities (eg, arthrogryposis, congenital hip dislocation, and ﬂattening of the skull
Clinical Assessment of Tone and Posture
Muscle tone may be deﬁned as the resistance of muscle to stretch. Evaluation of tone involves both the observation of resting posture (passive tone) and the assessment of resistance of the limbs to passive movement or to changes in posture (active tone). The infant’s gestational age, postnatal age, and level of alertness have a major inﬂuence on tone and clinical observations should be interpreted in the context of these factors. In general, during the development of the nervous system there is a caudal-cephalic progression in the maturation of myelination and, consequently, in the development of ﬂexor tone, which is reﬂected in the resting posture of the infant and his or her response to passive manipulation. The normal maturation of resting posture and the
TABLE 81-1. Maturation of Muscle Tone
Gestational Age (weeks) 28 32 36 40 Resting Posture
Response to Passive Manipulation Minimal resistance Lower limb ﬂexion Strong lower limb ﬂexion, weak arm ﬂexion Strong ﬂexor response in all limbs
Minimal limb ﬂexion Flexion of hips and knees Flexion of lower limbs (popliteal angle 90°), ﬂexion at elbows Flexion and adduction of all limbs
Current Management in Child Neurology, Third Edition © 2005 Bernard L. Maria, All Rights Reserved BC Decker Inc
Neonatal Hypotonia Pages 528–534
should not necessarily be considered abnormal until after 6 to 8 months of age. In addition. Maria. velocity-dependent increase in resistance during passive limb movement) and rigidity (ie. By term. The knee jerks may be accompanied by crossed adductor responses. whereas a more painful stimulus generally results in an extensor response. During vertical suspension when the infant is lifted up by the axillae with the examiner’s hands around the thorax. Both spasticity (ie. stereotypical movements (eg. at term. spastic diplegia).” and measurement of popliteal angle) in an attempt to quantify the maturation of muscle tone. ﬂexor tone in the limbs may be evaluated by observation of the power of recoil after rapid release of an extended limb. dragging the thumbnail along the lateral aspect of the sole of the foot) results in ﬂexion of the toes in more than 90% of infants. typically appear more brisk and Current Management in Child Neurology. up to ﬁve to ten beats of ankle clonus may be considered normal. knees. Reﬂexes tend to be less active in premature infants. twisting and stretching quality that may resemble athetoid movements. movements are predominantly ﬂexor. or it may occur in the context of neurologic dysfunction (eg. movements of the trunk and limbs often have a slow. Passive Manipulation Provided there is no limitation of joint movement (eg. Examination of resistance of the hips to passive abduction is an important test for spasticity in the lower extremities (eg. The traction response.Neonatal Hypotonia / 529 or loss of hair on the occiput) may provide corroborative evidence of longstanding hypotonia. often occurring symmetrically. and ankles. which. are easier to elicit than those in the upper extremities. which involves marked stimulus-sensitive tremulousness of the limbs that may be inhibited by changing the limb position. Movements that are consistently asymmetric may be a sign of focal brain injury or brachial plexus injury. Tendon Reﬂexes and Plantar Response The formal examination of tendon reﬂexes in the newborn may be of limited value because the range of normality is difﬁcult to deﬁne. In hypotonic infants. and ankles. the head typically falls forward and the legs dangle and the infant has a tendency to “slip through” the hands of the examiner. the shoulder muscles should be strong enough to permit suspension of the infant vertically with the head held erect and ﬂexion at the hips. constant increased resistance to passive manipulation throughout the range of movement) may be tested in newborns in a fashion similar to that used in older individuals. In premature infants. and symmetry of both spontaneous and elicited movements are of major importance in the evaluation of central nervous system (CNS) function in preterm and term infants. Hypotonia is often accompanied by an overall decrease in spontaneous and elicited movements. approximation of heel to ear. unless pronounced. or jittery and in whom there are no other signs of upper motor neuron dysfunction. there may be rapid. Classically. especially the patellar reﬂexes. the plantar response in the newborn has been considered to be extensor. Third Edition © 2005 Bernard L. quality. However. Thus. Muscle Power and Movement The quantity. wide-amplitude limb movements that resemble myoclonus. By 40 weeks of gestation. Normal movement patterns in the newborn are characterized by their overall variability. bicycling of the legs and rowing of the arms) should raise suspicion of neurologic abnormality (eg. hungry. when the infant is supported in a prone position with the examiner’s hands under the infant (ie. there is considerable variation in this response depending on the technique used because of several competing reﬂexes that are involved. the head should remain aligned with the body (“absent head lag”) and the infant should respond to the traction by ﬂexion at the elbows. hand to opposite ear “scarf sign. Tone in the trunk and neck is assessed by observation of head and neck control during traction maneuvers. By 32 weeks of gestation. hypoxic-ischemic encephalopathy and drug intoxication). knees. Some investigators have described speciﬁc maneuvers for the passive manipulation of limbs in the neonate (eg. is the most sensitive measure. Thus. with smooth. present by 33 weeks of gestation. Jitteriness. repetitive. a mild stimulus (eg. asymmetric. especially in infants who are crying. Similarly. seizure). the plantar response should be considered to be of limited value for determining the presence of an upper motor neuron lesion in the newborn. “horizontal suspension”). extensor tone in the neck muscles should permit lifting of the head to maintain the neck and trunk in alignment for brief periods. may be normal. when the infant is pulled by the arms from a supine to a sitting position. arthrogryposis). there may be marked variability in the briskness of reﬂexes from one occasion to another in the same infant. Reﬂexes in the lower limbs. and vertical suspension. a common pattern of abnormal tone in infants born prematurely. alternating limb movements of medium speed and intensity in response to gentle stimulation. Thus. horizontal (prone) suspension. infants are particularly active. jerky. For example. All Rights Reserved BC Decker Inc Sensory Examination Careful sensory examination is important in the context of hypotonia and should not be limited to eliciting a with- Neonatal Hypotonia Pages 528–534 . Consequently. Increased frequency of movements may be associated with cerebral irritability.
often observed in the tongue. Approach to Diagnosis The major task in the evaluation of a hypotonic newborn is to determine the anatomic level of the underlying pathology (ie. ical features that distinguish between cerebral and peripheral hypotonia are summarized in Table 81-3. and there may be atrophy. Tendon reﬂexes are usually diminished or absent. A stereotypical response and lack of habituation generally indicates considerable cerebral dysfunction. the posture is maintained for as long as the head is rotated). elicited by gentle touch of the perioral region. and patterned responses of the immature nervous system.” (ie. Muscle weakness is usually more marked. is established by 32 weeks of gestation. Third Edition © 2005 Bernard L. There may be dysmorphic features or malformations of other organs that suggest an underlying genetic abnormality. except deformities of bones or joints (arthrogryposis). Developmental or Primary Neonatal Reﬂexes These reﬂexes represent complex. the tendon reﬂexes are normal or hyperactive. abnormal level of consciousness or seizures) is the strongest clue that hypotonia is of central origin. Maturation of Developmental Reﬂexes Reﬂex Moro reﬂex Asymmetric tonic neck response Sucking and rooting Grasp Placing and stepping Trunk incurvation (Galant reﬂex) Age at Emergence 27 weeks (incomplete) 35 weeks 2nd trimester 27 weeks 34–37 weeks 24 weeks Age at Disappearance (months) 6 6 4 2 1–2 12 Current Management in Child Neurology. placing and stepping. Tight ﬁsting of the hands. and there is no evidence of muscle fasciculations. but are often very difﬁcult to distinguish from normal random tongue movements. disorders of the motor unit are not associated with malformations of other organs. The maturation of the most common developmental reﬂexes is outlined in Table 81-2. the degree of muscle weakness is usually mild. underlying diagnosis. With extensive hemispheric abnormality but preserved brainstem function. Adduction of the thighs such that the legs are crossed when the infant is held in vertical suspension (scissoring) may be evidence of lower limb spasticity. Premature newborns of greater than 28 weeks’ gestation are capable of discriminating between touch and pain. Postural reﬂexes are absent or diminished and limbs that lack voluntary movement also cannot move reﬂexively. Clinical Features of Peripheral Hypotonia In general. in some acute encephalopathies. The rooting reﬂex. suggest denervation. Fasciculations. Moro reﬂex. Furthermore. (2) an asymmetric response. the Moro reflex may be exaggerated. Sensory examination. Clinical abnormalities of these reﬂexes may be classiﬁed as (1) lack of an expected response. grasp reﬂex. Developmental reflexes may be classiﬁed further as postural reﬂexes (eg. Postural reﬂexes are generally preserved in infants with cerebral hypotonia despite a paucity of spontaneous movements. does the hypotonia reﬂect an abnormality within the central or in the peripheral nervous system). When hypotonia is of central origin. is a sign of cerebral dysfunction. the tonic neck reﬂex may be “obligatory. Clinical Features of Central Hypotonia Other evidence of abnormal brain function (eg. and trunk incurvation [Galant reﬂex]).530 / The Hospitalized Child drawal response only. which should elicit a purposeful avoidance maneuver (lateral withdrawal) as well as a grimace or cry after a recognizable brief latent period. The major clinTABLE 81-2. Because hypotonia is a common feature in central disorders in the newborn. In fact. Maria. All Rights Reserved BC Decker Inc Neonatal Hypotonia Pages 528–534 . which do not open spontaneously and in which the thumbs are enclosed by the other fingers or adducted across the palmar surface (palmar thumbs). sucking-swallowing and rooting reﬂexes. pin pricks) to the medial aspect of the extremities. may be crucial for diagnosing a spinal lesion as a cause of hypotonia by determining a deﬁnite sensory level. asymmetric tonic neck reﬂex). Most hypotonic infants may be categorized on the basis of a careful history and physical examination alone. stereotyped. especially of the lower limbs. this response should “habituate” or decrease with repeated testing. a wide range of investigations may need to be considered to establish a precise. A more accurate approach to the testing of sensory function involves observing the infant’s response to multiple (five) sharp stimuli (eg. the underlying speciﬁc anatomic and physiologic mechanisms of which are largely undefined. or tactile reﬂexes (eg. and (3) persistence of a reﬂex beyond the expected age of disappearance.
Muscle biopsy (either by open surgical technique or needle biopsy) is technically feasible in the newborn. as these procedures may cause false elevation of CK levels. Other biochemical investigations (eg. and most commonly. However. For example. + = feature is present. The greatest advances in recent years have been made in molecular genetic testing. The CK may be even higher in the context of acidosis (eg.Neonatal Hypotonia / 531 TABLE 81-3. presumably related to diminished fetal respiratory movements. although inheritance of both copies of chro- Neonatal Hypotonia Pages 528–534 . are rarely elicited in the newborn. which may lead to a mistaken diagnosis of disease involving the motor unit. ± = feature variable (may be present or absent). there may be evidence of preserved cranial nerve function. Clinical Features of Cerebral and Peripheral Hypotonia Clinical Feature Other abnormal brain function Malformation of other organs Tendon reﬂexes Postural reﬂexes Fisting of hands Fasciculations Facial weakness Limb weakness Cerebral Hypotonia +++ + Brisk or normal Preserved + – – ± Peripheral Hypotonia ± (variable) – Decreased or absent Absent – ± Variable +++ discharges. The blood for CK measurement should be obtained before performing the electromyography or muscle biopsy. trauma. serum lactate and carnitine levels) may be required in speciﬁc circumstances. The latter observation is a useful clue to antenatal onset of neuromuscular disease. Third Edition © 2005 Bernard L. may be related to traction forces during vaginal delivery. which are slower in normal newborns than in older individuals. and muscle or sural nerve biopsy) may be performed to determine the precise level of the pathological process affecting the motor unit. intracranial hemorrhage. the newborn infant is often ﬂaccid. anemia. seizures. Krabbe’s disease). Nerve conduction velocities. Prader-Willi syndrome is associated with deletions or translocations of the chromosome 15q11-13 region. although uncommon. Genetic and Chromosomal Disorders Down syndrome. and decreased level of consciousness associated with moderate or severe hypoxic-ischemic encephalopathy) suggest the most probable underlying diagnosis. serum creatine kinase [CK]. A chest radiograph may demonstrate enlarged cardiac silhouette signifying cardiomyopathy or thin ribs. Tendon reﬂexes may be absent initially but become exaggerated later. the most common chromosomal disorder associated with neonatal hypotonia. other disorders may have few clinical features other than hypotonia. Maria. nerve conduction studies and electromyography. Early biopsy may be required if there is severe respiratory muscle involvement to provide deﬁnitive diagnosis and prognosis to assist management decisions. All Rights Reserved BC Decker Inc Brain and Spinal Cord Injury or Trauma Moderate or severe acute hypoxic-ischemic encephalopathy is usually suspected on the basis of clinical indicators of intrapartum hypoxic-ischemic insult in concert with postnatal features of encephalopathy (eg. cerebrospinal ﬂuid [CSF] analysis. which in many instances have obviated more invasive investigations. the abnormal chromosome is contributed by the father. +++ = major feature (strongly present). muscle biopsy is often postponed for several months. and raised intracranial pressure. In many instances. which occur in older individuals with myotonic dystrophy. The CK and isoenzyme levels may be increased 10-fold for up to 1 week following normal vaginal delivery (presumably due to muscle trauma). should be easily recognizable. decreased level of consciousness or seizures). In such circumstances. The bladder may be distended with overﬂow incontinence. The technical performance and interpretation of the electromyogram (EMG) may be problematic in the newborn. congenital muscular dystrophy). may be very slow or unrecordable in the context of congenital peripheral neuropathies. severely asphyxiated newborns). The most common of these latter conditions are listed in Table 81-4 and will be discussed brieﬂy as follows. elevated levels of serum concentrations of CK generally imply skeletal or cardiac muscle necrosis. In some instances (eg. Thus. myotonic Current Management in Child Neurology. Cervical spinal cord injury. especially in the context of difﬁcult forceps delivery or breech presentation. other presenting symptoms or signs (eg. Intracranial hemorrhage may be associated with seizures. as may occur in rapidly progressive muscular dystrophies and metabolic myopathies. Major Disorders Associated with Cerebral Hypotonia Hypotonia is a feature of almost every cerebral disorder in newborns and older infants. repeated muscle biopsies may be useful for establishing an accurate diagnosis. neostigmine or edrophonium test. Otherwise. with absent spontaneous respirations. Speciﬁc aspects of these investigations relevant to newborns require clariﬁcation to avoid pitfalls in the interpretation of results. Nerve conduction studies are consistent and reliable after 32 weeks of gestation. – = feature may be absent. When infants are conscious. Markedly increased protein concentration in CSF may indicate peripheral neuropathy or speciﬁc degenerative conditions (eg. A battery of laboratory investigations (eg.
the muscle tone becomes normal and insatiable hunger. dicarboxylic acid. seizures.532 / The Hospitalized Child TABLE 81-4. retinitis pigmentosa. Diagnosis is conﬁrmed by chromosome analysis with prophase banding. and craniofacial dysmorphic features (eg. mosome 15 from the mother (maternal uniparental disomy) may also occur. Mutations of the PEX1 gene. pipecolic acid. In TABLE 81-5. Anterior Horn Cell Diseases These disorders. including meningitis and encephalitis Metabolic derangements or disorders Endocrine: hypothyroidism Drug intoxication addition. failure to thrive. Other biochemical abnormalities are hyperpipecolic acidemia and aciduria. arthrogryposis with camptodactyly (limited ﬁnger extension) and ﬂexion deformities of knees and ankles. In these situations. Adrenal glands are hypoplastic but adrenal failure does not occur. learning difﬁculties). affected infants have severe feeding difﬁculties that may necessitate prolonged nasogastric tube feeding. Hypotonia is present at birth Brain and spinal cord injury or trauma: hypoxic-ischemic encephalopathy and intracranial hemorrhage Genetic and chromosomal: Down syndrome and Prader-Willi syndrome Cerebral dysgenesis and other structural cerebral abnormalities Peroxisomal disorders: cerebrohepatorenal syndrome (Zellweger syndrome) and neonatal adrenoleukodystrophy Other rare metabolic or genetic conditions: generalized GM1. including biliary cirrhosis. which are subcellular organelles that assist in the catabolism of very-long-chain fatty acids. often in the context of advanced maternal age. glycogen disorder. and progressive neurologic deterioration. and lipid disorders Congenital myopathies: nemaline (rod body). There is no specific treatment for peroxisomal disorders and death often occurs in early infancy. and mental retardation become evident. In addition to profound hypotonia and hypogonadism. high forehead. may be analyzed in ﬁbroblast cultures and may permit prenatal diagnosis by chorionic villus sampling. As time progresses. Peripheral Causes of Hypotonia Abnormalities at any level of the motor unit may present with hypotonia in association with weakness and diminished tendon reﬂexes. Major Peripheral Causes of Hypotonia Level of anterior horn cell (lower motor neuron) Spinal muscular atrophy type I (Werdnig-Hoffman disease) Glycogen storage disease type II (Pompe’s disease) Hypoxic-ischemic injury Neonatal poliomyelitis Level of peripheral nerve Demyelinating neuropathies: hereditary or chronic inﬂammatory Neuroaxonal dystrophy (rare) Mitochondrial Lysosomal (Krabbe’s disease) Level of neuromuscular junction Myasthenia: neonatal transient or congenital myasthenic syndrome Toxic-metabolic: hypermagnesemia and aminoglycosides Infant botulism Level of the muscle Muscular dystrophy: congenital myotonic and congenital muscular dystrophy Metabolic myopathies: mitochondrial. obesity. Neonatal adrenoleukodystrophy is an autosomal recessive peroxisomal disorder with hypotonia. Third Edition © 2005 Bernard L. and oculocerebrorenal syndrome (Lowe syndrome). and unusual fullness of cheeks). All Rights Reserved BC Decker Inc Neonatal Hypotonia Pages 528–534 . Maria. The major disorders are listed in Table 81-5. The most reliable indicator of peroxisomal disorders is an elevation of very-long-chain fatty acids in blood. epiphyseal stippling. Benign Congenital Hypotonia The term “benign congenital hypotonia” has been used to describe infants who are hypotonic at birth but without a speciﬁc underlying diagnosis and whose tone normalizes during early childhood. and other Current Management in Child Neurology. Cohen syndrome. Normal respiratory function is helpful for distinguishing this condition from other disorders of the motor unit. hypertelorism. there are abnormalities of other organs. Major Causes of Central Hypotonia in the Newborn I. and phytanic acid and in the synthesis of plasmalogens. diminished tendon reflexes. Cohen syndrome. familial dysautonomia. Zellweger syndrome (cerebrohepatorenal syndrome) is characterized by profound hypotonia. hepatomegaly. and retinal degeneration. renal cysts. ongoing effort should be directed toward establishment of a more speciﬁc diagnosis. speciﬁcally spinal muscular atrophy type 1 (Werdnig-Hoffmann disease) account for approximately Peroxisomal Disorders These neurodegenerative disorders are caused by dysfunction of peroxisomes. Hypotonia usually develops shortly after birth Sepsis. Other genetic conditions that present with neonatal hypotonia and feeding difﬁculties include familial dysautonomia. and oculocerebrorenal syndrome (Lowe syndrome) Benign congenital hypotonia II. gangliosidosis. Most probably the term encompasses many different pathologic entities and affected infants have an increased incidence of other features of cerebral dysfunction (eg. Speciﬁc treatment is not available. which are responsible for more than 50% of cases. myotubular (centronuclear).
Occasionally. Response to edrophonium or neostigmine is variable and electrical studies show a decremental response to repetitive nerve stimulation at 20 Hz. and ﬁbrosis. Muscle biopsy and EMG are often not required in the initial evaluation unless the diagnosis cannot be conﬁrmed by clinical assessment and genetic testing. The serum CK is usually normal or may be slightly elevated. cranial nerve dysfunction (ptosis. Disorders of the Neuromuscular Junction Affected infants have hypotonia. respiratory impairment. which may be present in the gastrointestinal tract of young infants. In addition to hypotonia. and normal CSF examination. Impaired presynaptic release of acetylcholine by toxins (eg. and arthrogryposis. and honey. and weak cry). Diagnosis may be confirmed by a test dose of edrophonium or neostigmine methylsulfate administered intramuscularly or subcutaneously. which may result in the use of additional antibiotic therapy and further aggravation of the weakness. the rapid deterioration may be misdiagnosed as sepsis. Diagnosis is conﬁrmed by positive stool culture. and autonomic abnormalities (eg. The clinical course is variable and may be static or even reversible. and normal sensory function. There is Neonatal Hypotonia Pages 528–534 . Supportive management with possible respiratory support is required until the time of recovery. which may be several months later. Maria. areﬂexia. normal sensory function. apnea. bulbar dysfunction. and there is wide variation in the incidence of cases. Diagnosis can be conﬁrmed by electrical studies that demonstrate slowing of nerve conduction velocities. This organism often originates from soil. and feeding difﬁculties. Respiratory failure may occur. weakness. Infantile botulism results from presynaptic neuromuscular blockade by a toxin released by the organism Clostridium botulinum. a response is expected within 15 to 30 minutes. The diagnosis is conﬁrmed by deoxyribonucleic acid (DNA) testing in peripheral blood for the survival motor neuron gene on chromosome 5q (deletion of exons 7 and 8). Transient neonatal myasthenia gravis occurs in approximately 12% of newborns of mothers with myasthenia gravis. there may be facial weakness alone. Affected infants have generalized hypotonia and diminished tendon reﬂexes and may have abnormal sensory examination and elevated CSF protein. facial diplegia. bulbar dysfunction. The investigation of these disorders is evolving rapidly with the discovery of new gene mutations and associated abnormalities in protein products. low amplitude of the compound muscle action potential. demonstrating features of muscle necrosis. weakness. Electrical studies demonstrate decreased nerve conduction velocities. with grouped atrophy and hypertrophy of type 1 ﬁbers. or isolation of toxin from stool. low compound motor action potentials (CMAPs). feeding difﬁculties. deﬁnitive diagnosis may be made by molecular genetic testing and rarely. Affected newborns generally present with a combination of hypotonia. In many instances. regeneration. The disorder has been described in infants who are exclusively breastfed. or by an incremental response on rapid repetitive nerve stimulation (20 to 50 Hz) and abundant small motor unit potentials on EMG. Ongoing treatment with pyridostigmine and supportive care may Current Management in Child Neurology. possibly. Forms of congenital myasthenia gravis that involve abnormal structure of motor end plates are rarely seen. sural nerve biopsy. There is no proven beneﬁt from antibiotics or antitoxin. agricultural products. In select circumstances. With the latter medication. Peripheral Nerve Disorders Peripheral neuropathies rarely present during the newborn period. which permits repeated and more prolonged evaluations to establish improvement. Third Edition © 2005 Bernard L. where there are high levels of botulinum spores in soil. absent deep tendon reﬂexes. tongue fasciculations. which resolve gradually over several weeks or months. respiratory difﬁculties. hypermagnesemia following maternal treatment of eclampsia with magnesium sulfate and treatment with aminoglycoside antibiotics) may result in rapidly progressive ﬂaccid weakness. ptosis. This autosomal recessive disorder is thought to result from apoptosis of the anterior horn cell. and Pennsylvania. and spontaneous fibrillations. Affected infants usually have hypotonia. Utah. pupillary dilation and urinary retention). Congenital myotonic dystrophy is inherited exclusively from the mother. Affected infants have generalized weakness.Neonatal Hypotonia / 533 35% of all newborns with severe hypotonia of neuromuscular origin. The histology on muscle biopsy is nonspeciﬁc. which may remain undetected during the newborn period. with almost one-half of all cases originating in California. All Rights Reserved BC Decker Inc be required. Muscle biopsy demonstrates severe denervation. A history of polyhydramnios or prematurity may indicate more severe intrauterine onset of disease. affected infants (who were previously healthy) have impaired pupillary responses and constipation. Muscular Dystrophies These genetically determined myopathies are characterized clinically by progressive weakness. There is a major advantage of the use of neostigmine over edrophonium in that the beneﬁcial effect lasts 1 to 3 hours. and. and low sensory nerve action potentials (SNAPs). feeding difﬁculties. It is not related to the severity or duration of the maternal illness or to maternal antibody levels.
ca Provides information on neuromuscular diseases and MDC services and research.fsma. a speciﬁc protein in the muscle membrane. and Walker-Warburg syndrome). myopathic changes on EMG.B. and fund-raising resources. Suite 900 Toronto. Sunrise Drive Tucson. may present during the neonatal period. Neurology of the newborn. facial weakness. immunocytochemical investigations of muscle biopsy tissue may demonstrate deﬁciency of merosin. 4th ed. decreased white matter and ocular abnormalities [muscle-eye-brain-disease]. research. spasticity.mdac. Box 196 Libertyville. All Rights Reserved BC Decker Inc Neonatal Hypotonia Pages 528–534 . publications. MDA services. cytochrome-c oxidase deﬁciency. which may be static or which may progress. dilated cerebral ventricles. Third Edition © 2005 Bernard L. cataracts. Devivo D. CNS features include seizures. and periventricular leukomalacia). or optic nerve abnormalities. The serum CK and EMG are often normal. and survival may be predicted on the basis of normal suck and swallowing function by 12 weeks of age. and dystrophic changes on muscle biopsy. Philadelphia (PA): W. Congenital Myopathies with Distinct Histology Many myopathies are classiﬁed according to their distinct histologic appearance observed on muscle biopsy.O.org Provides information on neuromuscular diseases. possible neuroimaging abnormalities. cerebral dysgenesis.org http://www.534 / The Hospitalized Child a high mortality rate (almost 50%). Darras BT. Signiﬁcant cerebral dysfunction is a frequent feature. possibly. 1995.mdausa. Philadelphia (PA): W. Progressive weakness and reduced survival often occur in variants with prominent CNS features (eg.B. Philadelphia (PA): Butterworth-Heinemann. Families of Spinal Muscular Atrophy P. Neuromuscular diseases of infancy. glaucoma. Metabolic Myopathies Rarely. Saunders. childhood and adolescence: a clinician’s approach. Usually. Diagnosis depends on enzyme assays and muscle biopsy results. and the annual telethon. 2003. Royden-Jones H. In cases with CNS involvement. IL 60048-0196 Phone: 800-886-1762 E-mail: sma@fsma. cerebral dysgenesis [Fukuyama’s syndrome]. AZ 85718-3208 Phone: 800-572-1717 Fax: (520) 529-5300 E-mail: email@example.com Provides information on spinal muscular atrophy. Practitioner and Patient Resources Muscular Dystrophy Canada (MDC) 2345 Young Street. Exceptions are nemaline myopathy and X-linked myotubular myopathy which have a severe neonatal variety with respiratory failure. carnitine deﬁciency. Diagnosis may be conﬁrmed in the mother of the affected newborn by an increase in trinucleotide repeats (CTG) on chromosome 19q13. as well as a fund-raising newsletter.org http://www. Congenital muscular dystrophies are inherited in an autosomal recessive fashion and present with weakness. 2001. mitochondrial cytopathies (eg. Muscle disorders in childhood. and glycogen and lipid disorders) Current Management in Child Neurology. they present with hypotonia and relatively mild but static weakness and. Muscular Dystrophy Association(MDA) 3300 E. carnitine palmityltransferase deﬁciency. Suggested Readings Dubowitz V. 2nd ed. Volpe JJ.3. Maria. Ontario M4P 2E5 Phone: (416) 488-0030 or 800-567-2873 Fax: (416) 488-7523 http://www. Investigations may reveal normal or moderate elevation of CK. Saunders. including neuroimaging abnormalities (eg.
This action might not be possible to undo. Are you sure you want to continue?
We've moved you to where you read on your other device.
Get the full title to continue reading from where you left off, or restart the preview.