Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Hypotonic patients may display a variety of objective manifestations that indicate decreased muscle tone. Motor skills delay is often observed, along with hypermobile or hyperflexible joints, drooling and speech difficulties, poor reflexes, decreased strength, decreased activity tolerance, rounded shoulder posture, with leaning onto supports, and poor attention. The extent and occurrence of specific objective manifestations depends upon the age of the patient, the severity of the hypotonia, the specific muscles affected, and sometimes the underlying cause. For instance, some people with hypotonia may experience constipation, while others have no bowel problems.
The term "floppy infant syndrome" is used to describe abnormal limpness when an infant is born. Infants who suffer from hypotonia are often described as feeling and appearing as though they are "rag dolls". They are unable to maintain flexed ligaments, and are able to extend them beyond normal lengths. Often, the movement of the head is uncontrollable, not in the sense of spasmatic movement, but chronic ataxia. Hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding latch.
Hypotonia is a common finding. Around 10% of people with distal 18q- have seizures.
Dysmyelination is a common finding in people with distal 18q-, present in about 95%. Hypoplasia of the corpus callosum is also a common finding.
Symptoms begin in infancy and include:
- hypotonia
- areflexia
- amyotrophy
- variable degrees of dysgenesis of the corpus callosum
- mild to severe intellectual and developmental delay
- psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior
Microcephaly is a disorder in which the circumference of the head is smaller than average for the person's age and gender. Most children with microcephaly also have a smaller than typical brain and intellectual disability. Some of the most common signs and symptoms associated with microcephaly are seizures, poor feeding, high pitched cry, intellectual disability, developmental delay, and increased movement of arms and legs.
Facial features found in this syndrome include
- dolichocephaly
- hypertelorism
- ptosis
- microretrognathia
- high arched palate
- long flat philtrum
- low set ears
Non facial features of this syndrome include
- hyperextensibility
- hypotonia
- lateral meningoceles
The lateral meningocoles are a common finding in this syndrome. They may be associated with neurological abnormalities and result in bladder dysfunction and neuropathy.
Approximately 100 cases have been described in the literature to date.
The facial features are characteristic and include
- Deep set eyes
- Strabismus
- Myopia
- Marked nasal root
- Broad and/or beaked nasal bridge
- Prominent Cupid's bow
- Everted lower lip
- Tented upper lip
- Large mouth
- Widely spaced teeth
- Wide and shallow palate
- Ears with thick and overfolded helix
Most have a smiling appearance.
Intellectual disability is severe. Language is absent or limited to only a few words. Stereotypic movements particularly of the arms, wrists and fingers is almost universal. Hypotonia is common (75%) as is an unsteady gait. All have delayed walking. Other features include a single (simian) palmar crease, long, slender fingers, flat feet and cryptorchidism (in males). Finger clubbing and the presence of fetal pads is common. Hyperventilation occurs in over half and is frequently followed by apnea and cyanosis. During these episodes aerophagia may occur. Constipation is common. Microcephaly and seizures may occur. Hypopigmented skin macules have occasionally been reported.
In some children without “classic” holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum.
Ptosis is quite common among people with 18p-. In many cases, surgical correction is required. Refractive errors, such as myopia, hyperopia, and astigmatism, are also prevalent. Strabismus has been reported in infants and children with 18p-. Nystagmus is also present in a minority of individuals.
Only a few spinal deformities have been seen in children with 1p36. The deformities found are:
- Kyphoscoliosis: Spinal deformity combining a sideways curvature with a hunching forward of the upper part of the spine.
- Postural Kyphosis: Also called postural "round back". This was found secondary to hypotonia in some children with 1p36.
The extensor Babinski reflex is usually absent. Muscle paresis/paralysis, hypotonia/atonia, and hyporeflexia/areflexia are usually seen immediately following an insult. Muscle wasting, fasciculations and fibrillations are typically signs of end-stage muscle denervation and are seen over a longer time period. Another feature is the segmentation of symptoms – only muscles innervated by the damaged nerves will be symptomatic.
Signs and symptoms of ACC and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone (hypotonia), poor motor coordination, delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, and chewing and swallowing difficulties. Laboratory research has demonstrated that individuals with ACC have difficulty transferring more complex information from one hemisphere to the other. They also have been shown to have some cognitive disabilities (difficulty in complex problem solving) and social difficulties (missing subtle social cues), even when their intelligence quotient is normal. Recent research suggests that specific social difficulties may be a result of impaired face processing. The unusual social behavior in childhood is often mistaken for or misdiagnosed as Asperger syndrome or other autism spectrum disorders. Other characteristics sometimes associated with callosal disorders include seizures, spasticity, early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and a mental handicap.
Affected children display severe psychomotor retardation, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of the hands, fingers, or toes.
Some syndromes that frequently include ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, acrocallosal syndrome, septo-optic dysplasia (optic nerve hypoplasia), Mowat–Wilson syndrome, John Sayden syndrome, Menkes syndrome, and L1CAM Syndrome. Some conditions that are sometimes associated with ACC include maternal nutritional deficiencies or infections, metabolic disorders, fetal alcohol syndrome, craniofacial abnormalities, and other oral and maxillofacial pathologies.
Andermann syndrome also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease among others is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation, and is often associated with agenesis of the corpus collosum.
It was first described by Eva Andermann et al. in 1972.
Flaccid dysarthria is a motor speech disorder resulting from damage to peripheral nervous system (cranial or spinal nerves) or lower motor neuron system. Depending on which nerves are damaged, flaccid dysarthria affects respiration, phonation, resonance, and articulation. It also causes weakness, hypotonia (low-muscle tone), and diminished reflexes., Perceptual effects of flaccid dysarthria can include hypernasality, imprecise consonant productions, breathiness of voice, and affected nasal emission.
Al-Raqad syndrome (ARS) is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad.
It's characterized by:
- microcephaly
- growth delay
- Psycho-motor developmental delay
- congenital hypotonia.
Al-Raqad syndrome is caused by mutation of DCPS gene.
The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.
Most common causes of lower motor neuron injuries are trauma to peripheral nerves that serve the axons – a virus that selectively attacks ventral horn cells.
Disuse atrophy of the muscle occurs i.e., shrinkage of muscle fibre finally replaced by fibrous tissue (fibrous muscle)
Other causes include Guillain–Barré syndrome, "C. botulism", polio, and cauda equina syndrome; another common cause of lower motor neuron degeneration is amyotrophic lateral sclerosis.
The combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of Gillespie syndrome. Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of syndrome. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia.
Atypical Gillespie syndrome associated with bilateral ptosis, exotropia, correctopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.
Neurological signs ar nystagmus, mild craniofacial asymmetry, axial hypotonia, developmental delay, and mild mental retardation. Mariën P did not support the prevailing view of a global mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS).
Congenital pulmonary stenosis and helix dysplasia can be associated.
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, a wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea. It is associated with an abnormality within chromosome 18: specifically, it is caused by an insufficient expression of the TCF4 gene.
Flaccid dysarthria is caused when damage occurs to the motor unit (one or more cranial or spinal nerves). Processes that can cause this include:
- Congenital disorders
- Demyelinating disorders
- Infectious/Inflammatory
- Degenerative disorders
- Metabolic
- Neoplastic
- Traumatic
- Vascular Diseases
- Flaccid Paralysis
Onset of symptoms usually occur in early adulthood and is characterized by intention tremor, progressive ataxia, convulsions, and myoclonic epileptic jerks.
Tremors usually affect one extremity, primarily the upper limb, and eventually involve the entire voluntary motor system. Overall, the lower extremity is usually disturbed less often than the upper extremity.
Additional features of the syndrome include: an unsteady gait, seizures, muscular hypotonia, reduced muscular coordination, asthenia, adiadochokinesia and errors with estimating range, direction, and force of voluntary movements. Mental deterioration can occur, however it is rare.