Benign congenital hypotonia bch or congenital hypotonia with favorable outcome also known as chfo is a medical term used to describe mild hypotonia in children. In cases where hypotonia is caused by an infection, the symptoms may disappear if the infection can be successfully treated. Hypotonia is a condition in which a person has decreased muscle tone. It occurs in multiple neuromuscular, metabolic and genetic disorders. On first glance, the magnitude of the differential diagnosis, the rarity of associated illnesses, and the ongoing advances in diagnosis and management may appear overwhelming. Infants with normal tone tend to have flexed elbows and knees. Multiple congenital anomalieshypotoniaseizures syndrome type 2 mcahs2 is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone at birth, myoclonic seizures which cause jerks or twitches of the upper body, arms, or legs, and various other problems involving the central nervous system, heart, and urinary system. Hypotonia and weakness in early infancy may be a sign of a central nervous disorder eg, cerebral palsy, a primary neuromuscular disorder, or a genetic syndrome associated with hypotonia eg, down syndrome, praderwilli syndrome.
Hypotonia may originate from disturbances in the physiology of central or peripheral nervous. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. A condition that equally affects males and females, hypotonia is becoming more common than it used to be. Again, specialist treatment and support may be needed while the baby improves. Infants with hypotonia seem floppy and feel like a rag doll when held. Congenital hypotonia congenital amyoplasia the bmj. However, these signs also commonly occur as a consequence of common neonatal conditions such as congenital. If hypotonia decreased muscle tone is suspected in a newborn baby or young child, theyll be referred to a specialist.
Hypotonia is a condition of abnormally low muscle tone the amount of tension or resistance to movement in a muscle, often involving reduced muscle strength. Congenital hypotonia is a medical term used to refer to poor muscle tone thats present at birth congenital. Testing of strength in infants and young children is difficult, even for experienced examiners. All children were referred for the evaluation of delayed motor performance during the first year of life.
Neonatal hypotonia childrens hospital of orange county. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. About benign congenital hypotonia what is benign congenital hypotonia bch. Bodensteiner, md the pediatric neurologist is regularly asked to evaluate a hypotonic patient. This article includes discussion of cerebral hypotonia, central hypotonia, essential hypotonia, benign congenital hypotonia, and floppy infant. Congenital hypotonia article about congenital hypotonia. Hypotonia that is not associated with a motor unit disorder is more common than hypotonia caused by an underlying motor unit disorder. Hypotonia hypotension, the lowering of tone tension of a tissue, organ, or system. However, the term benign congenital hypotonia is still used to describe children with mild hypotonia who appear to have a favourable outcome and in whom no other diagnosis can at this stage be made. Early recognition and intervention is the key to recovery. Infants with this problem seem floppy and feel like a rag doll when held. It would seem unlikely that this condition, although a clinical entity, has a single.
Centrallymediated hypotonia will be further referred to in this document as central hypotonia in the interest of simplicity. Benign congenital hypotonia usually manifests at birth and shows up as normal limb movements and tendon reflexes along with weakness. Hypotonia is the medical term for decreased muscle tone. Hypotonia is a common finding with cerebral palsy and other neuromuscular disorders. Genetic evaluation of the pediatric patient with hypotonia. The term hypotonia is most often used to denote a lowering of blood pressure below 10565 mm hg 148. Spagnoli lg, palmieri g, bertini e ital j neurol sci 1985 sep. Thank you for your interest in spreading the word about the bmj. It is more common to see hypotonia in children than it is in adults, although children with the condition can have it their entire lives. The congenital form typically presents with hypotonia, muscle weakness, or respiratory distress, and may progress to include mental retardation or early death. They retain a certain amount of tension and stiffness muscle tone that can be felt as resistance to movement. For example, it can be seen in down syndrome, muscular dystrophy, cerebral palsy, praderwilli syndrome, myotonic dystrophy, and taysachs disease. Hypotonia decreased muscle tone is a symptom rather than a condition. Neonatal hypotonia clinical approach to floppy baby 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.
If this is the only diagnosis given, it is not really a diagnosis, but a label for we dont know. The criteria initially suggested for the diagnosis are. The term benign congenital hypotonia was historically used as a diagnosis for infants who were hypotonic in the absence of other signs and symptoms, and. Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone the amount of tension or resistance to stretch in a muscle, often involving reduced muscle strength. Hypotonia is reduced resistance to passive movement of joints. Causes include central nervous system and muscle disorders. Multiple congenital anomalieshypotoniaseizures syndrome. A sittingonair posture was found in 26 children 60%, and bottom shuffling. Congenital muscle hypotonia article about congenital.
The deficits causing hypotonia can originate in the brain, spinal cord, peripheral nerves, neuromuscular junction, and muscle. A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years. This consultation request usually occurs in 2 different situations. This term is especially used for diagnosis of the children who cant be diagnosed with any other different condition. Approach to the infant with hypotonia and weakness uptodate. Ideally, the assessment of infants with congenital. Conditions where central and peripheral hypotonia may coexist are familial dysautonomia, hypoxicischemic encephalopathy, infantile neuroaxonal degeneration, lipid storage diseases.
The infants with nonparalytic conditions who had hypotonia without significant weakness included disorders of the central nervous system, connective tissue disorders, metabolic, nutritional, and endocrine disorders, acute illness, and essential or benign hypotonia. In some cases, braces may be needed to permit a full range of movement in patients with. The name literally means a harmless case of poor muscle tone strength, elasticity since birth. These congenital conditions include downs syndrome, krabbe disease, marfans syndrome and spinalmuscular atrophy. The elements of the clinical evaluation of the hypotonic child including those clinical tests most. Decreased muscle tone and strength that results in floppiness. Congenital muscle hypotonia definition of congenital. Myotonic dystrophy type i is an autosomal dominant disorder, associated with an expansion of an unstable triplet ctg repeat in the dmpk gene. Hypotonia in babies born to mothers with myasthenia gravis a condition that causes weakness in certain muscles usually improves quickly. Specific etiologies of central hypotonia include brain insults and malformations, as well as genetic, metabolic, traumatic, anatomical, or idiopathic causes of central neural dysfunction. Untreated hypotonia can lead to hip dislocation and other problems. Benign congenital hypotonia bch is a nonprogressive neuromuscular disorder that is present at birth.
The clinical features and shortterm followup of benign congenital hypotonia bch were studied in a group of 43 children. Cerebral hypotonia the coalition against pediatric pain. Hypotonia american academy of pediatrics textbook of. Or rather, symptoms are noticed within a few weeks to a year sometimes with. It is a descriptive label for any congenital disease whose main symptoms are weak and floppy muscles. Multiple congenital anomalieshypotoniaseizures syndrome2 is an xlinked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. They rest with their elbows and knees loosely extended. A condition in which there is a diminution or loss of muscular tonicity. Early recognition and intervention is the key to recovery for benign congenital hypotonia shannon munro cohen, rnc, bsn teresa whitt, ph. Hypotonia support group hypotonia is a condition of abnormally low muscle tone the amount of tension or resistance to movement in a muscle, often involving reduced muscle strength. However, the term benign congenital hypotonia is still used to describe children with mild hypotonia who appear to have a favourable outcome. What links here related changes upload file special pages permanent link page information.
If desired, clinicians can request a separate file containing a list of. More detailed information about the symptoms, causes, and treatments of benign congenital hypotonia is available below symptoms of benign congenital hypotonia. For example, a person relies on the tone in their back and neck muscles to maintain their position when standing or sitting up. The term benign congenital hypotonia applies to children with low muscle tone who have no other underlying conditions. Infants born with some congenital disorders are more likely to suffer from hypotonia. Hypotonia, an ongoing problem for many children, is defined as decreased muscle tone or floppiness with varying degrees of progression. Assessment of neonatal hypotonia clinical guideline v3. Neonatal hypotonia, also known as floppy infant syndrome, is the main presenting clinical feature of most neuromuscular diseases of early life 1. Bch is normally discovered within the first few months of life. There are also nonneuromuscular entities that may be associated with hypotonia including. There may be mild or normal retardation in motor developments.
Congenital myopathies are not rare in the neonatal period and account for 20% of hypotonia at birth and clinical work up may require muscle enzyme studies and or muscle biopsy 8. Gordon abstract twenty five children diagnosed with benign congenital hypotonia bch between infancy and 2 years of age were examined at 6 to 8 years of age and compared to 26 controls, matched for sex, age, and weight, in a study at the school of. The hypotonia was mild in 35 children and moderate in 8. Findings should be documented on the neonatal hypotonia investigation sheet. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Hypotonia is a common chief complaint listed in referrals to child neurologists in both inpatient and outpatient settings. Congenital hypotonia definition of congenital hypotonia. A syndrome or a disease benign congenital hypotonia.
A targeted test for monogenic causes of hypotonia using a trio approach. Neurological conditions are those that affect the nerves and nervous system. The clinical course of the hypotonia should be elucidated, such as age at onset and whether the hypotonia has improved or worsened. Its not a disease but a sign of an underlying problem. Benign congenital hypotonia is often inaccurately used as if it were a proper disease in its own right. Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone often. Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle. However, disorders of the central nervous system may also manifest. This will usually be a paediatrician a specialist in treating children with expertise in disorders of the nerves and nervous system, or a neurologist a specialist in disorders of the nerves and nervous system.
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