Progressive muscle weakness, manifested in a “floppy baby” appearence, and progressive respiratory insufficiency are the other key clinical features.
[ncbi.nlm.nih.gov]
Cardiomegaly is not typically seen, but progressive muscle weakness resulting in motor delays, swallowing difficulties, and respiratory insufficiency usually occurs as in
[centogene.com]
Later onset forms are characterized by skeletal muscle weakness, respiratory insufficiency and hepatomegaly. Cardiac involvement is usually absent or mild.
[genedx.com]
Respiratory insufficiency, progressive - Weak cry - Apneic episodes - Respiratory failure Skeletal - Contractures (variable)
[mnglabs.com]
Here we report four Chinese infants with fatal neuromuscular disorders characterized by abdominal and trunk skeletal muscle stiffness and rapid respiratory insufficiency progression
[jin.imrpress.com]
[…] muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts.
[mendelian.co]
[…] scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency
[informatics.jax.org]
The weak axial muscles commonly lead to spinal rigidity and curvature, which can in turn, lead to progressive respiratory insufficiency.
[cags.org.ae]
[…] congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive
[informatics.jax.org]
insufficiency, muscle atrophy, progressive microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam
[en.wikipedia.org]
[…] pontocerebellar hypoplasia (SMA-PCH) PCH1B 614678 EXOSC3 9p13.2 Cerebellar and spinal motor neuron degeneration beginning at birth and resulting in decreased body tone, respiratory
[en.wikipedia.org]
insufficiency, muscle atrophy, progressive microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam
[en.wikipedia.org]
[…] pontocerebellar hypoplasia (SMA-PCH) PCH1B 614678 EXOSC3 9p13.2 Cerebellar and spinal motor neuron degeneration beginning at birth and resulting in decreased body tone, respiratory
[en.wikipedia.org]
Hypoplasia of the brainstem Lissencephaly Microcephaly Poor speech Progressive microcephaly Psychomotor retardation Seizures Type II lissencephaly Abnormality of the respiratory
[ncbi.nlm.nih.gov]
[…] microcephaly Respiratory insufficiency due to muscle weakness Scoliosis Abnormality of the nervous system Agyria Corpus callosum, agenesis of Global developmental delay Hydrocephalus
[ncbi.nlm.nih.gov]
[…] system Respiratory insufficiency due to muscle weakness Ear malformation Sensorineural hearing loss IMPORTANT NOTE: NIH does not independently verify information submitted
[ncbi.nlm.nih.gov]
insufficiency, muscle atrophy, progressive microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam
[en.wikipedia.org]
[…] pontocerebellar hypoplasia (SMA-PCH) PCH1B 614678 EXOSC3 9p13.2 Cerebellar and spinal motor neuron degeneration beginning at birth and resulting in decreased body tone, respiratory
[en.wikipedia.org]
respiratory insufficiency.
[alveolarproteinosis.eu]
Alveolar filling may progress to respiratory insufficiency, but the course of the disease is variable.
[ncbi.nlm.nih.gov]
Castleman in 1958, is a rare syndrome characterized by the intra-alveolar accumulation of surfactant lipids and proteins, leading to impaired gas-exchange and resulting in progressive
[alveolarproteinosis.eu]
[…] ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness.
[malacards.org]
[…] motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
[mendelian.co]
MalaCards Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084]: An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive
[genecards.org]
[…] weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts.
[checkorphan.org]
insufficiency due to muscle weakness ; Slow progression Associated Genes CRYAB (Withdrawn symbols: CRYA2, HSPB5 ) Mouse Orthologs Cryab (Withdrawn symbols: Crya-2, Crya2
[mousephenotype.org]
[…] affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts.
[diseaseinfosearch.org]
[…] before infants die of respiratory insufficiency, often by age 2.
[medical-dictionary.thefreedictionary.com]
Progressive worsening of the proximal contractures, weakness, and a pectus carinatum deformity develop before the children die of respiratory insufficiency, usually in the
[unboundmedicine.com]
Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips; proximal contractures progressively weaken and a pectus carinatum develops
[medical-dictionary.thefreedictionary.com]
respiratory insufficiency.
[jcnonweb.com]
Large rib defects with paradoxical chest motion lead to early deathdue to progressive respiratory insufficiency, hence it is a lethal syndrome.
[ijps.org]
The frequent respiratory tract infections and progressive breathing insufficiency occures what can lead to death.
[stary.lf2.cuni.cz]
insufficiency.
[medlink.com]
Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression.
[emedicine.medscape.com]
Worse prognosis has also been associated with respiratory insufficiency due to weakness of diaphragm and accessory respiratory muscles and/or thoracic deformities6.
[scielo.br]
[…] scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency
[rarediseases.info.nih.gov]
Progressive respiratory insufficiency is aggravated by diaphragmatic weakness.
[ncbi.nlm.nih.gov]
Respiratory difficulties are progressive and often cause breathing insufficiency (respiratory failure). Delays in reaching motor milestones also occur.
[rarediseases.org]
[…] to prominent distal weakness and respiratory insufficiency (FVC of 29%).
[neurology.org]
The patient’s mother had suffered from slowly progressing predominantly lower limb muscle weakness from the age of 50 years, subsequently developed respiratory insufficiency
[bmcneurol.biomedcentral.com]
Methods: Case report Results: A 29-year-old Afghan woman with no family history of muscle disease who developed proximal limbgirdle weakness in her early 20s that slowly progressed
[neurology.org]
The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.
[orpha.net]
Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression.
[emedicine.medscape.com]
insufficiency is common and progressive Muscle weakness is slowly progressive. The cardiac system is usually normal. Intelligence and brain MRIs are normal. 70.
[slideshare.net]
In patients who develop progressive respiratory insufficiency and cor pulmonale, lung transplantations have been performed.
[thieme-connect.com]
respiratory insufficiency. 18. © 1.
[slideshare.net]
[…] disease leading to respiratory insufficiency associated with cyanosis, clubbing and pulmonary hypertension. [1] There is no satisfactory therapy for this condition [1].
[ijcasereportsandimages.com]
[…] that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011). (211500) Wikipedia : 77 Fazio–Londe disease (FLD), also called progressive bulbar
[malacards.org]
Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain
[genecards.org]
It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness
[malacards.org]
Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency.
[genome.jp]
[…] muscle weakness leading to death due to respiratory insufficiency within the first five years of life.
[rarediseases.info.nih.gov]
insufficiency Respiratory impairment 0002093 Scapular winging Winged shoulder blade 0003691 Scapuloperoneal amyotrophy 0003697 Scapuloperoneal weakness 0003704 Slow progression
[rarediseases.info.nih.gov]
Three of these patients displayed rapid clinical progression and acute respiratory insufficiency, while their prognosis was poor.
[spandidos-publications.com]
Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression.
[emedicine.medscape.com]
Progressive respiratory insufficiency is aggravated by diaphragmatic weakness.
[ncbi.nlm.nih.gov]
[…] disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
[orpha.net]
Respiratory difficulties are progressive and often cause breathing insufficiency (respiratory failure). Delays in reaching motor milestones also occur.
[rarediseases.org]
[…] to respiratory insufficiency If purely acute, usually resolves in 1-2 days with supportive treatment Subacute and chronic patients may present with acute exacerbation Subacute
[surgpathcriteria.stanford.edu]
Acute Usually follows 2-9 hours after a heavy exposure Patient must be presensitized (frequently unknowingly) Flu-like symptoms Fever, chills, malaise, nausea Cough may progress
[surgpathcriteria.stanford.edu]
Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency.
[genome.jp]
insufficiency ; Scapuloperoneal amyotrophy ; Scapuloperoneal weakness ; Scoliosis ; Slow progression ; Type 1 muscle fiber predominance Associated Genes MYH7 (Withdrawn symbols
[mousephenotype.org]
insufficiency Respiratory impairment 0002093 Scapular winging Winged shoulder blade 0003691 Scapuloperoneal amyotrophy 0003697 Scapuloperoneal weakness 0003704 Slow progression
[rarediseases.info.nih.gov]
[…] developed chronic respiratory insufficiency with continued PIE from which recovery was not possible.
[ncbi.nlm.nih.gov]
Eventually all three infants developed respiratory insufficiency and chronic dependence on mechanical ventilation, cardiovascular complications of patent ductus arteriosus
[ncbi.nlm.nih.gov]
[…] developed chronic respiratory insufficiency with continued pulmonary interstitial emphysema from which recovery was not possible.
[neonatalicu.blogspot.com]
After initial improvement, she developed progressive respiratory insufficiency for which she received noninvasive positive pressure ventilation.
[circ.ahajournals.org]
Most patients develop progressive respiratory insufficiency related to the abnormally small thorax and renal insufficiency.
[ncbi.nlm.nih.gov]
The 20% of children with ATD surviving beyond the neonatal period suffer from thoracic insufficiency syndrome (TIS) which leads to progressive respiratory restrictive disease
[doi.org]
Despite mechanical ventilation with high oxygen concentration he developed progressive hypoxemia and at 5 weeks he died of respiratory insufficiency.
[doi.org]
After 3 days of spontaneous breathing she had to be re-intubated because of progressive respiratory insufficiency due to intervening further neurological deterioration and
[cardiothoracicsurgery.biomedcentral.com]
[…] motor involvement with kyphoscoliosis and respiratory insufficiency.
[checkorphan.org]
Affected patients present with hypotonia before the first birthdate and show a slow progression of proximal muscle weakness, kyphoscoliosis, and respiratory insufficiency,
[pediatricneurologybriefs.com]
The myopathy may be progressive and individuals with extensive skeletal muscle weakness may have respiratory insufficiency and scoliosis.
[disorders.eyes.arizona.edu]
Unfortunately, she died as a result of progressive respiratory insufficiency.
[ncbi.nlm.nih.gov]
insufficiency and progressive liver disease in infancy or early childhood.
[mendelian.co]
respiratory insufficiency and lung disease with a variable clinical course.
[mendelian.co]
DEFICIENCY; NAGSD Medium match SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive
[mendelian.co]
