Most affected individuals exhibit resolution of hepatomegaly, hypotonia, muscle weakness, risk of fasting hypoglycemia, and abnormal biochemical parameters before or at puberty. (medscape.com)
Patients with adult-onset glycogen-storage disease type II typically present with proximal muscle weakness between the second and sixth decades of life. (medscape.com)
Storage in skeletal muscle leads to hypotonia and weakness. (medscape.com)
Patients older than 6 months present with motor delays and/or slowly progressive muscle weakness. (medscape.com)
Adults with late-onset GSD II typically present with proximal muscle weakness between the second and sixth decades of life. (medscape.com)
Among the more common signs of cerebellar ataxia include cataracts, delays in learning skills requiring the coordination of muscular and mental activity (psychomotor development), hypotonia, decreased muscle tone, and progressive muscle weakness. (pediatricshealthcenter.com)
Some people also have heart problems or muscle symptoms (such as involuntary muscle contractions, muscle weakness, or muscle spasms). (msdmanuals.com)
As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to breathing and kidney problems. (msdmanuals.com)
Patients typically exhibit global developmental delay, intellectual disability (ranging from mild to severe), weakness of the muscles and decreased muscle tone (hypotonia), seizures, short stature and limbs (dwarfism), hearing loss, and vision impairments. (rarediseasesnetwork.org)
The disease is characterized by symptoms such as muscle weakness and cramps in the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia). (brainandnervecenter.com)
The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. (findmeacure.com)
Tone20
Newborns may present with profound hypotonia (low muscle tone), and a poor ability to feed. (wikipedia.org)
and weak muscle tone (hypotonia) in the torso. (medlineplus.gov)
Cerebral palsy is a group of disorders that affect movement and muscle tone or posture. (floridahealth.gov)
Symptoms that may appear are fatigue, apathy or hypotonia (poor muscle tone). (digitalnaturopath.com)
Recommend low-resistance exercise to help increase muscle tone and stabilize loose joints. (medscape.com)
Symptoms involve the growth restriction specific to the uterus, feeding ordeals, varying craniofacial features, hypotonia (low muscle tone), developmental impediments and mild to extreme intellectual disabilities. (pediatricshealthcenter.com)
Physical therapists can help your child maintain muscle tone and flexibility. (filmsdivision.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 we work towards utilizing current biotechnology and medical advancements to discover a cure for EDS, it is important that people born with EDS receive their diagnosis and actively maintain their muscle tone and strength and continuously monitor the stability of the internal organs and blood vessels in order to prevent spontaneous ruptures and prolong independent mobility. (njkidsonline.com)
For many children this means skipping gym class at school and going to personalized physical therapy sessions instead in order to maintain their muscle tone and strength without risking injury to their fragile bodies. (njkidsonline.com)
Abnormal increase in skeletal or smooth muscle tone. (lookformedical.com)
Most children with down syndrome have hypotonia (low muscle tone) which may slow their physical growth and if the down syndrome treatment is not done, then later in life causes problems like bad posture. (iiahp.com)
Therapy can help them to develop tone and strength of the muscles, and also teaches how to move their bodies in a proper way, which helps them in their day-to-day functioning. (iiahp.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)
Initially, infants will exhibit diminished muscle tone (hypotonia), which can cause a baby to feel "floppy" when held. (rarediseases.org)
Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). (medlineplus.gov)
Infants and kids with hypermobility frequently have vulnerable muscle tone (hypotonia), that may put off the improvement of motor capabilities which include sitting, status, and walking. (usa-good.com)
3. A condition of diminished tone of the skeletal muscles, resulting in the diminished resistance of muscles to passive stretching. (wordinfo.info)
The little ones on my caseload with low muscle tone are getting floppier and crabbier with each week at camp or daycare. (thepracticalot.com)
Symptoms6
It frequently begins with the following signs and symptoms: Headache, Muscle Aches, Fever that may be 104 F (40 C) or higher. (striveforgoodhealth.com)
A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. (pediatricshealthcenter.com)
Additional symptoms that may affect individuals with hypomelanosis of Ito include additional eye abnormalities, deafness, overgrowth of one side of the body (hemihypertrophy), heart (cardiac) abnormalities, kidney (renal) malformations, and abnormalities of the genitourinary tract, which contains the reproductive organs and urinary system. (skincarehealthcenter.com)
Several different types of EDS have been described, with symptoms varying depending on which organs are the most affected. (healthincode.com)
As a result, a substance called methylmalonic acid and other potentially toxic compounds can accumulate in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia. (medlineplus.gov)
Abnormalities of muscle tissues, including hypotonia and permanently bent joints (contractures), are a few of the function signs and symptoms of the musculocontractural and myopathic varieties of Ehlers-Danlos syndrome. (usa-good.com)
Weak1
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)
Severe4
This occurs when a severe, sudden drop in blood pressure reduces blood flow to vital organs, especially to the kidneys and brain. (striveforgoodhealth.com)
SLC39A8-CDG is a rare and severe inherited autosomal recessive condition which affects many organ systems simultaneously. (rarediseasesnetwork.org)
Infantile hypotonia, which is often severe, is a near universal feature of the disorder. (rarediseases.org)
For those infants that do survive, the multi-organ damage that can ensue means the risk of developing severe life-long morbidities is high. (frontiersin.org)
Tissues5
Ehlers-Danlos syndrome (EDS) refers to a group of hereditary genetic diseases that affect the connective tissue , whose function is to provide cohesion to other body tissues and support many body parts such as skin, joints, blood vessels, and internal organs. (healthincode.com)
This type of EDS is characterized by the involvement of the following organs and tissues. (healthincode.com)
The tissues that constitute these muscles are typically classified, however, as one of three basic types: striated, smooth, or cardiac. (fsu.edu)
Ehlers-Danlos syndrome is a group of inherited conditions that affect connective tissues that aid organs and different tissues during the body. (usa-good.com)
Ehlers-Danlos syndrome is a set of problems that have an effect on connective tissues helping the skin, bones, blood vessels, and plenty of other organs and tissues. (usa-good.com)
Skeletal muscle3
Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES. (lookformedical.com)
Sometimes alternatively known as skeletal muscle, this tissue type is usually attached to the body s skeleton via fibrous tendons and is under voluntary control. (fsu.edu)
Cerebellum: Portion of the brain that lies in the posterior fossa and coordinates skeletal muscle movement. (chiariproject.org)
Infantile2
Infantile Refsum disease can also affect the function of many other organ systems. (wikipedia.org)
In the classic infantile form of Pompe disease, clinically significant glycogen storage occurs in cardiac muscle. (medscape.com)
Abnormalities1
The leukodystrophies are a group of inherited conditions that cause abnormalities of myelin, which makes up the sheaths of many nerves in the white matter of the brain and that connect with muscles and sensory organs in the body. (medicalhomeportal.org)
Infants1
Furthermore, although cooling of the neonate results in improved neurological outcomes for a small proportion of treated infants, it does not provide any benefit to the other organ systems affected by asphyxia at birth. (frontiersin.org)
Body's2
Some people with Aicardi-Goutières syndrome have features characteristic of autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own systems and organs. (medlineplus.gov)
The unusual hereditary disorder known as Marinesco-Sjogren syndrome-myopathy affects a number of the body's organ systems. (pediatricshealthcenter.com)
Syndrome3
Internal organ defects in the gastrointestinal tract are features of Down syndrome. (mommemos.com)
The vascular type is considered one of the more serious forms of Ehlers-Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). (findmeacure.com)
Bleeding problems are not unusual inside the vascular sort of Ehlers-Danlos syndrome and are due to unpredictable tearing (rupture) of blood vessels and organs. (usa-good.com)
Stiffness1
This disease causes gradual muscle stiffness and loss of strength and feeling in your limbs. (filmsdivision.org)
Temporomandibular joint dysfu1
This is characterized by the application of excessive forces in the masticatory muscles, may cause temporomandibular joint dysfunction, headaches and tooth wear. (bvsalud.org)
Limbs1
has important functions in automatic movements of the limbs and in the control of muscle tonus. (chiariproject.org)
Joints4
EDS has no racial or sexual predisposition and has variable affects on the patient's skin, joints, muscles, blood vessels and internal organs. (njkidsonline.com)
Because EDS is commonly associated with chronic progressive pain, hypermobile joints, hyper-elastic and/or smooth, velvety skin, easy bruising, and muscle hypotonia, EDSers (the term used to describe people born with EDS) are often written off with the diagnosis of growing pains and clumsiness during childhood. (njkidsonline.com)
This results in hyperelastic skin that's fragile and bruises easily, excessive looseness of the joints, blood vessels that are easily damaged and, rarely, rupture of internal organs. (findmeacure.com)
[4] Physical therapy and bracing may help strengthen muscles and support joints. (wikipedia.org)
Cardiac2
The overall prognosis of rare GSD VI variants with associated muscle or cardiac involvement depends on the severity of organ dysfunction. (medscape.com)
Contrariwise, smooth muscle, which consists of spindle-shaped fibers arranged in sheets along the walls of most hollow organs, and cardiac muscle, which is striated and found only in the heart, are controlled involuntarily by the autonomic nervous system. (fsu.edu)
Occur2
The pathology can occur anywhere along the neuromuscular pathway, from the brain to the nerves to the muscle fibers. (bvsalud.org)
Primary muscle hypotonia may occur, leading to delayed motor development, ambulation problems, and minor motor alterations. (healthincode.com)
Muscular3
The hollow, muscular organ that maintains the circulation of the blood. (easyauscultation.com)
2. A condition in which there is diminution or loss of muscular tonicity, resulting in the stretching of the muscles beyond their normal limits. (wordinfo.info)
4. The condition (in muscle or muscular tissue) of being hypotonic. (wordinfo.info)
Internal1
Together, they form a protective cage around the internal thoracic organs. (lookformedical.com)
Mild1
Glycogen storage disease type VI has a rather benign course, with risks of growth retardation, mild fasting hypoglycemia, hypotonia, and delayed motor milestones in early childhood. (medscape.com)
Dysfunction1
In turn, this leads to enlargement and dysfunction of the entire organ involved (eg, cardiomyopathy). (medscape.com)
Involvement1
Classification is based on age of onset, organ involvement, severity, and the rate of disease progression. (medscape.com)
Chronic1
In general, people with this variant have skin that is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. (wikipedia.org)
Fatigue1
Fatigue and muscle cramps are relatively frequent and, in some cases, cerebrospinal fluid leaks have been identified as the cause of orthostatic hypotension and headache in individuals with classic EDS. (healthincode.com)
Potentially1
Hypotonia can be present before birth (prenatally) potentially causing decreased fetal movements and abnormal positioning of the fetus (e.g., breech position). (rarediseases.org)
Body5
Cystic fibrosis is an inherited condition that causes damage to the lungs, difestive system and other organs in the body. (floridahealth.gov)
Mitochondria supply energy to many organs in the body. (msdmanuals.com)
The upper part of the body containing the brain, mouth, and sense organs. (easyauscultation.com)
There are more than 600 muscles in the human body, which collectively comprise about 40 percent of one s bodyweight. (fsu.edu)
Named for its banded appearance under the microscope, striated muscle comprises the bulk of muscle tissue in the human body. (fsu.edu)
Progressive2
The respiratory muscles are also affected, resulting in hypoventilation and progressive respiratory compromise. (medscape.com)
2. Progressive degeneration of an organ or tissue caused by loss of cells. (wordinfo.info)
Brain2
MEF2C plays a very important role in the development and maintaneance of multiple organs, including brain where pne of its functions is that of creating brain cells. (asociacionmef2c.com)
Although the majority of research is directed toward reducing the brain injury that results from intrapartum birth asphyxia, the multi-organ injury observed in surviving neonates is of equal importance. (frontiersin.org)
Systems2
The accumulation of these lipids can impair the normal function of multiple organ systems, as discussed below. (wikipedia.org)
An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. (hmdb.ca)
Manifestations1
Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited. (nih.gov)