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Benign Congenital Hypotonia (Symptoms and Management), Synonym: congenital hypotonia with favourable outcome (CHFO) What is benign congenital hypotonia? The diagno...
Generalised hypotonia is noted at birth. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved.
Clinical features Feeding difficulties and respiratory tract infections are the most common problems in infancy. [ 3 ] Growth failure of prenatal origin and congenital short stature [ 4 ] ...
Synonyms: Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, familial cerebellar vermis agenesis, cerebello-oculo-renal syndrome. [ 1 ] Joubert's syndrome is a rare autosomal rec...
Although the disease is associated with spasticity, there may be hypotonia in early life. In severe cases, the neonatal hypotonia may resemble spinal muscular atrophy but over 90% ...
The main features include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other hormone deficiencies,...
Failure to thrive, hypotonia and hypoglycaemia are other features. It may damage the basal ganglia. Acute striatal necrosis in infancy is the main cause of morbidity associated with the co...
Musculoskeletal: in some types herniation, hypotonia, delayed motor development. In some types kyphoscoliosis, dental abnormalities. Ocular: in some types abnormalities of the globe and co...
Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome [ 7 ] General: Hyperflexibility.
There is hypotonia followed by hypertonia, opisthotonus (hyperextension of the spine causing backward arching of the neck and back) or retrocollis (backward arching of the neck).
The incidence of autistic spectrum disorders is 30% in patients with Moebius sequence. [ 3 ] Neurological sequelae Hypotonia , pharyngeal weakness, feeding difficulties . Res...
Severe general learning disability, severe limitation of comprehension and speech, seizures, ataxic gait, hypotonia, muscle hypertrophy. Microcephaly, a distinct 'Greek warrior helmet&...
The gene has been traced to chromosome 17. [ 5 ] Pompe's glycogen storage disorder symptoms (Presentation) [ 1 ] Classic infantile onset Pompe disease Presents before 12 months o...
Feeding difficulties (poor suck, dysphagia, muscle hypotonia, gastro-oesophageal reflux). Other typical features include: Microcephaly.
Two broad types are recognised based on the onset of symptoms and the presence or absence of cardiomyopathy: The most severe form, referred to as classic infantile onset Pompe's disease is...
Abnormal muscle tone - for example, reduced tone or appearing floppy (hypotonia), increased tone or stiffness (spasticity) or changing tone between being floppy and stiffness (dystonia).
About half the cases are only mildly affected. [ 5 ] Untreated children with partial biotinidase (BTD) deficiency do not exhibit symptoms unless they are stressed, eg by prolonged infection. [ 6 ] ...
Neonates have axial hypotonia and tachypnoea during the first hours of life. [ 4 ] Other features which may be seen with this disorder include: Failure to thrive .
Potential causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities and meta...
Some cases are inherited, but the mode of inheritance appears to be variable (autosomal-dominant, autosomal-recessive, X-linked). [ 4 ] Secondary: cystinosis, tyrosinaemia, Wilson's disease, ...