• Affected individuals may also have seizures, an unusually small head size ( microcephaly ), or weak muscle tone (hypotonia). (nih.gov)
  • It develops in early life and can cause a wide range of symptoms, including psychomotor and developmental retardation, hypotonia (weak muscle tone), encephalopathy (brain disease or damage), seizures, and early death. (umassmed.edu)
  • Clinical characteristics of deletions and duplications may include developmental retardation and intellectual developmental disorders, slowed growth, behavioural disorders, feeding problems, low muscle tone, seizures, characteristic facial features, and other abnormalities. (nipt-geneplanet.com)
  • These include changes in muscle tone or paralysis, seizures, and developmental delay . (symptoma.com)
  • These individuals are prone to have developmental delays , seizures, weak muscle (hypotonia), vision problems and intellectual problems. (symptoma.com)
  • Babies with this disorder have recurrent seizures (epilepsy), uncontrolled limb movements (choreoathetosis), exaggerated reflexes (hyperreflexia), weak muscle tone ( hypotonia), and excessive sleepiness (hypersomnolence). (fixbuisness.com)
  • Signs and symptoms of this disorder include failure to thrive, subnormal body temperature, weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, blue sclera and developmental delay. (smartspeechtherapy.com)
  • Furthermore, targeted rehabilitation therapy as early as possible is warranted to treat hypotonia, while seizures require treatment with symptom-specific drugs. (bhaskarhealth.com)
  • Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. (frontiersin.org)
  • Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)
  • Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. (nih.gov)
  • SRS patients show symptoms of the disease beginning at birth: failure to thrive, hypotonia (weak muscle tone), developmental delay, and intellectual disability. (chanzuckerberg.com)
  • Signs and symptoms of vitamin B12 deficiency in infants include vomiting, lethargy, anemia, failure to thrive, hypotonia (low muscle tone), and developmental delay/regression. (happyfamilyorganics.com)
  • Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
  • After birth, hypotonia is associated with lethargy, a weak cry, poor responsiveness to stimuli and poor reflexes including poor sucking ability, which result in feeding difficulties and failure to thrive. (rarediseases.org)
  • In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). (hmdb.ca)
  • As a result, affected infants have a lack of energy (lethargy), a weak cry, and they move less than normal. (nhden.com)
  • Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
  • Infants with Down syndrome (Trisomy 21) can have hypotonia (low muscle tone) which can lead to abnormal or weakened control of the oropharyngeal structures, contributing to an uncoordinated and/or weak suck, or difficulty swallowing, similar to those experienced by premature infants (For more information see ABM Protocol 16 ). (cdc.gov)
  • Initially, infants will exhibit diminished muscle tone (hypotonia), which can cause a baby to feel "floppy" when held. (rarediseases.org)
  • To treat hypotonia in infants, the doctor may prescribe drug therapy and suggest physical therapy. (my.id)
  • Due to feeding difficulties and muscle weakness, infants with Pompe disease may have difficulty gaining weight and growing at a normal rate. (worldpompe.org)
  • With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. (mentalhealthhelpcenter.com)
  • However, by about two months of age, affected infants may seem weak and have an inability to hold up the head. (mentalhealthhelpcenter.com)
  • Clinical examination revealed left esotropia, severe muscle hypotonia, and decreased deep tendon reflexes, particularly with respect to both her lower limbs. (frontiersin.org)
  • At the end of the appointment Noah had been diagnosed with central hypotonia (weak abdominal muscles), increased tone in his arms, diminished reflexes in his legs, and she confirmed the tremor in both hands. (askdoctormommy.com)
  • Children that are affected usually present with a weak muscle tone and the absence of reflexes since birth (also known as neonatal hypotonia and areflexia), which causes problems with feeding and breathing. (bhaskarhealth.com)
  • The first physical sign associated with PMS is neonatal hypotonia, or low muscle tone. (thesheetnews.com)
  • hand trembling or involuntary muscle movements. (winetourismday.org)
  • Hypotonia can be present before birth (prenatally) potentially causing decreased fetal movements and abnormal positioning of the fetus (e.g., breech position). (rarediseases.org)
  • The muscles that control breathing and neck and limb movements can also be affected. (doctorbhatia.com)
  • Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. (blogspot.com)
  • Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
  • Breastfeeding can also help to strengthen jaw and facial muscles, which could benefit babies with low muscle tone. (cdc.gov)
  • Babies with hypotonia may have limbs and joints that feel "floppy" like a rag-doll. (newbornscreening.info)
  • Often, a problem with communication in the nervous system between the brain and muscles is the main underlying cause of hypertonia in babies. (careoptionsforkids.com)
  • Babies with Pompe disease often have weak muscle tone, which can lead to difficulties with feeding, poor head control, and delayed motor development. (worldpompe.org)
  • citation needed] Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance. (wikipedia.org)
  • Infantile hypotonia, which is often severe, is a near universal feature of the disorder. (rarediseases.org)
  • Infantile-onset Pompe disease presents in early infancy and is characterized by severe and rapidly progressive muscle weakness, cardiac involvement, and respiratory issues. (worldpompe.org)
  • Less severe than infantile-onset Pompe disease, late-onset Pompe disease leads to progressive muscle weakness that may begin at any time from childhood to later in life. (worldpompe.org)
  • Muscle weakness caused by recurrent infections. (wikipedia.org)
  • In most cases, the first noticeable symptom is weakness of the eye muscles. (doctorbhatia.com)
  • The degree of muscle weakness involved in MG varies greatly among patients, ranging from a localized form, limited to eye muscles (ocular myasthenia), to a severe or generalized form in which many muscles - sometimes including those that control breathing - are affected. (doctorbhatia.com)
  • Eventually, muscle tightness and weakness in both arms and legs will follow. (symptoma.com)
  • Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia . (symptoma.com)
  • While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. (nhden.com)
  • Muscle weakness can affect the respiratory muscles, causing shortness of breath, difficulty breathing, and respiratory insufficiency. (worldpompe.org)
  • Over time, the progressive muscle weakness can lead to musculoskeletal complications such as scoliosis and lordosis (curvature of the spine), and joint contractures (limited range of motion). (worldpompe.org)
  • People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. (blogspot.com)
  • The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. (blogspot.com)
  • The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. (findmeacure.com)
  • This is often accompanied by feeding difficulties, a weak cry and poor head control. (thesheetnews.com)
  • No feeding difficulties or hypotonia were noticed. (symptoma.com)
  • MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities. (mentalhealthhelpcenter.com)
  • X-linked mental retardation with hypotonia is a condition characterized by mild to moderate intellectual disability that affects only males. (mentalhealthhelpcenter.com)
  • Hypertonia is a medical term for too much muscle tone. (careoptionsforkids.com)
  • Hypertonia can also be treated by giving botulinum toxin (Botox) injections into the muscles. (my.id)
  • Hypotonia is the opposite of hypertonia, where muscle tone is too little or too little. (my.id)
  • So if a baby with hypertonia can look stiff and has poor balance, then a baby with hypotonia looks too flabby and powerless to even support or hold his own body. (my.id)
  • It has milder and more variable progression of symptoms, primarily affecting the skeletal muscles and respiratory system. (worldpompe.org)
  • This is one of the primary symptoms and can affect various muscle groups, including the muscles involved in breathing, sucking, swallowing, and crawling. (worldpompe.org)
  • Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. (blogspot.com)
  • Due to hypotonia, severely reduced motor development, and other abnormalities, affected children very rarely develop any ability to walk and when they do, it is with shuffling gait. (mentalhealthhelpcenter.com)
  • Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases. (beds.ac.uk)
  • This is a decrease in muscle tone that leads to loose or weak muscles and joints. (newbornscreening.info)
  • This is a condition that refers to a decrease in muscle tone so that the joints are too flexible or weak. (my.id)
  • Many children experience delayed/ difficulty walking , loss of neck control and low muscle tone in the trunk, which occurs early on. (symptoma.com)
  • Lack of muscle strength causes difficulty with feeding and breathing problems that can lead to frequent infections, such as pneumonia . (symptoma.com)
  • In differential diagnosis, we have to bear in mind that bilateral cataracts of the eyes and hypotonia are also found in congenital infections (such as rubella), congenital myopathies, mitochondriopathies and some other syndromes. (bhaskarhealth.com)
  • In patients whose respiratory muscles are already weak, crises may be triggered by infection, fever, an adverse reaction to medication, or emotional stress. (doctorbhatia.com)
  • The condition is typically caused by rare mutations in genes regulating the electrical impulses that control heartbeat rhythm and the muscle fibers that enable heart contractions, in the top chambers of the heart known as the atria. (umassmed.edu)
  • Spasticity and muscle rigidity usually begin in the legs and later develop in the arms. (symptoma.com)
  • Your doctor can prescribe several types of muscle relaxants, such as baclofen, diazepam, and dantrolene, which work to reduce spasticity. (my.id)
  • Pompe disease can affect the muscles responsible for breathing, leading to breathing difficulties, recurrent respiratory infections, and potentially respiratory failure. (worldpompe.org)
  • Cerebral palsy is a group of disorders that affect movement and muscle tone or posture. (floridahealth.gov)
  • Management of Lowe's syndrome includes early cataract surgery in order to avoid amblyopia, while ocular tone has to be tested repeatedly in order to diagnose glaucoma. (bhaskarhealth.com)
  • Another symptom of Menkes disease is weak muscle tone, also known as hypotonia. (mentorleo.com)
  • The accumulation of glycogen in heart muscle cells can result in an enlarged heart, leading to heart problems such as congestive heart failure. (worldpompe.org)
  • The patient manifested low muscle tone and weak sucking upon birth, and was still unable to raise her head and turn over her body at 4 months of age. (frontiersin.org)