[…] prominently involved organ leading to hypotonia and weakness, PD is also classified as a metabolic myopathy.17 Due to the general hypotonia and respiratory muscle weakness
[ncbi.nlm.nih.gov]
weakness Absence of reflexes Difficulties in feeding Elevated levels of CK Congenital muscular dystrophy Severe hypotonia Severe weakness in muscles Hypothyroidism Hypotonia
[ncbi.nlm.nih.gov]
Late-onset Pompe disease (LOPD) can develop any time after the age of one year with the onset of proximal muscle weakness and difficulty breathing.
[ncbi.nlm.nih.gov]
Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.
[ncbi.nlm.nih.gov]
KEYWORDS: Collagen; Fibrosis; IGF-1; Mesenchymal; Mouse; Muscular dystrophy; Skeletal muscles; Weakness
[ncbi.nlm.nih.gov]
Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.
[nlm.nih.gov]
Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports.
[ncbi.nlm.nih.gov]
As a result, patients present at an early age with muscle weakness, failure to thrive, developmental delay, hypotonia, seizures, and metabolic acidosis.
[symptoma.com]
Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features.
[mayomedicallaboratories.com]
Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.
[kmle.co.kr]
Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects.
[ghr.nlm.nih.gov]
hypotonia respiratory distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy
[medbullets.com]
An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase
[ncbi.nlm.nih.gov]
Patient often have hypotonia (weak muscle tone), dystonia (involuntary muscle contractions) and ataxia (trouble with balance).
[eyewiki.aao.org]
At 14 months, his developmental milestones slowed and muscle hypotonia appeared.
[ajnr.org]
Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.
[orpha.net]
Later cases were reported with cardiomyopathy and muscle weakness.
[en.wikipedia.org]
Children with the childhood myopathic (cardiac) type usually present between ages two to four with heart disease (cardiomyopathy), low muscle tone (hypotonia), skeletal muscle
[rarediseases.org]
Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia ) due to loss of the lower
[rarediseases.info.nih.gov]
The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse.
[ghr.nlm.nih.gov]
It is caused by a loss of specialized nerve cells, called lower motor neurons, leading to muscle weakness and muscle cell death.
[smanewstoday.com]
We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING
[semanticscholar.org]
She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.
[ncbi.nlm.nih.gov]
In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear
[ghr.nlm.nih.gov]
Ocular and facial muscles and cerebral function are preserved. There may be deformities of limbs/joints at birth from in utero hypotonia.
[patient.info]
Muscle weakness seen in SMA4 is similar to the muscle weakness seen in other genetic conditions.
[resourcerepository.org]
[…] weakness and hypotonia (severely reduced muscle tone), causing difficulties when moving, breathing, eating and swallowing Difficulties in raising the head in an upward position
[thehumanthebody.com]
Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis
[encyclopedia.pub]
All individuals had impaired motor function, which was attributed to low muscle tone and muscle weakness.
[researcher-app.com]
Affected children commonly experience severe developmental delays, weak muscle tone, and involuntary movement of the limbs.
[ncats.nih.gov]
Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy
[rarediseases.info.nih.gov]
Diseases related with Muscle weakness and Atopic dermatitis In the following list you will find some of the most common rare diseases related to Muscle weakness and Atopic
[mendelian.co]
Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy
[rareguru.com]
They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia).
[ispub.com]
Symptoms include generalized weakness and muscle wasting with muscle twitches common, atrophy of distal leg muscles, thigh muscle weakness, distal arm muscle weakness, impaired
[smaaustralia.org.au]
Ocular and facial muscles and cerebral function are preserved. There may be deformities of limbs/joints at birth from in utero hypotonia.
[patient.info]
The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation
[ncbi.nlm.nih.gov]
They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.
[ghr.nlm.nih.gov]
Ocular and facial muscles and cerebral function are preserved. There may be deformities of limbs/joints at birth from in utero hypotonia.
[patient.info]
Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.
[ncbi.nlm.nih.gov]
The PPi excess can cause tooth loss, rickets or osteomalacia, calcific arthropathies, and perhaps muscle weakness.
[ncbi.nlm.nih.gov]
Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.
[decisionsindentistry.com]
The most typical presentation is progressive muscle disease characterized by generalized hypotonia, proximal muscle weakness, loss of previously acquired motor skills, poor
[cags.org.ae]
muscle weakness can vary widely among affected individuals.
[ncbi.nlm.nih.gov]
muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral
[orpha.net]
Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.
[biodonsys.com]
A 52-year-old Sri Lankan man presented with anorexia, nausea, fatigue, generalized muscle weakness, and cramps for 1 week.
[ncbi.nlm.nih.gov]
Some infants have diminished muscle tone (hypotonia), so that a baby appears “floppy”, attributable to elevated levels of calcium in the blood (hypercalcemia).
[rarediseases.org]
However, in more severe cases, patients can present with muscle weakness, paraesthesia, constipation / ileus or pseudo-obstruction, hypotonia, hyporeflexia, muscle cramps,
[teachmesurgery.com]
Careful monitoring of electrocardiogram changes and muscle weakness in hyperkalemia is important to determine its functional consequences.
[acls.com]
[…] manifestations: -Hypotonia and muscle weakness -Respiratory depression -Muscle cramps -Constipation and/or ileus -Rhabdomyolysis and myoglobinuria In hyperkalemia, the resting
[clinicaladvisor.com]
(hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).
[ismrd.org]
Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing
[egl-eurofins.com]
Low or weak muscle tone 0001252 Narrow palate Narrow roof of mouth 0000189 Open bite Absence of overlap of upper and lower teeth Open bite between upper and lower teeth [
[rarediseases.info.nih.gov]
While some affected newborns may have some mild hypotonia (decreased muscle tone or “floppiness”), other symptoms are rarely present at birth or in early infancy.
[nationwidechildrens.org]
Muscle weakness Other names Myasthenia Specialty Neurology Muscle weakness is a lack of muscle strength.
[en.wikipedia.org]
Review Topic | Tested Concept QID: 2232 1 Pseudohypertrophy of the calves, markedly increased creatine kinase levels, and abnormal dystrophin 2 Proximal muscle weakness occuring
[orthobullets.com]
Loss of lower motor neurons causes denervation atrophy of muscle, manifested by severe hypotonia, weakness, and inability to breathe.
[neuropathology-web.org]
[…] wasting and weakness, absent reflexes, loss of weight and muscle twitching.
[mndnsw.asn.au]
Symptoms may include hypotonia (severely reduced muscle tone), diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties
[web.archive.org]
[…] tone (hypotonia, muscle weakness, hyporeflexia) Psychiatric overtones (Depression 30–40%, anxiety, cognitive dysfunction, insomnia, coma) Other symptoms include cardiac arrhythmias
[en.wikipedia.org]
She had nausea, vomiting, leg pain, polyuria, polydipsia, and muscle weakness. At the time of relapse, the ionized calcium level was 1.99 mmol/L.
[ncbi.nlm.nih.gov]
weakness, depression, anorexia, nausea, and constipation High level of calcium in the blood Higher than normal levels of calcium in the blood.
[icd9data.com]
hypotonia ( 20, 21 ).
[doi.org]
Symptoms of botulism include difficulty in focusing the eyes, double vision, difficulty in swallowing, drooping eyelids, dry mouth, muscle weakness, and/or slurred speech.
[businessdictionary.com]
(decreased tone of skeletal muscles) extending to generalized weakness (the "floppy baby") and, in some cases, respiratory insufficiency and arrest.
[ph.ucla.edu]
HYPOTONUS Zie ook: CONGENITAL HYPOTONIA BENIGN CONGENITAL HYPOTONIA Zie ook: SPIEREN MUSCLES Zie ook: HYPERTONIE HYPERTONIA HYPERTONUS TONUS Zie ook: SYNDROOM van ALLAN-HERNDON-DUDLEY
[catsclem.nl]
But repeated attacks may lead to permanent muscle weakness. HyperPP responds well to treatment. Treatment may prevent, and may even reverse, progressive muscle weakness.
[nlm.nih.gov]
Weakness Severe Axial & Generalized Respiratory Face Course: Slow progression Ophthalmoplegia (40%) Skeletal Palate: High arched Scoliosis (60%) Cardiac: Normal Laboratory Muscle
[neuromuscular.wustl.edu]
[…] tone (hypotonia) Episodes of lactic acidosis (accumulation of lactic acid in the body and brain) that may impair breathing and kidney function Heart problems Diagnosis Diagnosis
[rarediseases.about.com]
Symptoms include: Severe muscle weakness Poor muscle tone Lack of growth and weight gain in infants An enlarged heart, liver, or tongue Tay-Sachs disease: This is caused by
[webmd.com]
hepatomegaly, ascites, inguinal hernia, growth delay, muscle wasting, laryngomalacia, dysostosis multiplex Treatment: Supportive care Galactosialidosis (Goldberg syndrome
[msdmanuals.com]
[…] tone (hypotonia) severe liver disease frequent respiratory infections difficulty with speech difficulty with swallowing and feeding loss of cognitive skills seizures Treatment
[childrenshospital.org]
Cataplexy is the sudden muscle weakness brought on by strong emotions, particularly joking, laughter, or anger.
[ncbi.nlm.nih.gov]
[…] weakness Muscular weakness 0001324 Muscular hypotonia Low or weak muscle tone 0001252 Osteoporosis 0000939 Protuberant abdomen Belly sticks out Extended belly [ more ] 0001538
[rarediseases.info.nih.gov]
Low potassium may cause fatigue, muscle cramps, muscle weakness, numbness, or temporary paralysis.
[web.archive.org]
Patients may present with headaches, muscle weakness and fatigue.
[symptoma.com]
[…] cramps Muscle weakness Numbness Temporary paralysis Increased urine Increased thirst Figure 2: Signs and Symptoms of Primary Hyperaldosteronism The most common sign of primary
[web.archive.org]
Other symptoms may include: vomiting constipation pain in the back, arms and legs muscle weakness (due to effects on nerves supplying the muscles) urinary retention palpitations
[porphyriafoundation.org]
Motor involvement during acute attacks may lead to persistent muscle weakness and muscle atrophy between attacks.
[msdmanuals.com]
People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face
[malacards.org]
[…] disorder defined on the basis of muscle weakness and the presence of structural abnormalities in the muscle fibres, i.e. nemaline bodies.
[biochemj.org]
[…] contraction and resulting in the muscle weakness that occurs in cap myopathy.
[ghr.nlm.nih.gov]
[…] tone (hypotonia) and muscle weakness at birth.
[rarediseases.org]
We selected patients with the Occidental, non-FCMD, who fulfilled the following diagnostic criteria: (1) muscle weakness and hypotonia during early infancy, delayed developmental
[n.neurology.org]
In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures.
[patient.info]
[…] tone (hypotonia) and muscle weakness at birth.
[rarediseases.org]
Muscle weakness MDC1A is a congenital muscle dystrophy which manifests itself as muscular weakness.
[voorsara.nl]
In children over 8 there may be muscle contractions, muscle pain etc. (1) Causes of hypotonia Hypotonia in an infant may be due to multiple causes.
[news-medical.net]