Affects every muscle disease that affects muscular atrophy spinal. Medical search. Frequent questions

The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body's center (distal). (medlineplus.gov)
The muscle weakness usually worsens with age. (medlineplus.gov)
It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life. (medlineplus.gov)
They can also have breathing problems due to weakness of respiratory muscles and an abnormally bell-shaped chest that prevents the lungs from fully expanding. (medlineplus.gov)
Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. (medlineplus.gov)
However, as the muscle weakness worsens later in childhood, affected individuals may need support to sit. (medlineplus.gov)
and respiratory muscle weakness that can be life-threatening. (medlineplus.gov)
Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. (medlineplus.gov)
Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. (medlineplus.gov)
In contrast to MD, the term myopathy generally refers to acquired or congenital muscle disorders that typically do not demonstrate ongoing cycles of degeneration/regeneration, but still result in weakness and disability due to loss of contractile function. (medscape.com)
Therapies have been difficult to develop because of the lack of clarity on how a shortage of the SMN protein leads to motor neuron death and muscle weakness in patients," said the study's lead author Ruben J. Cauchi, PhD, a faculty member of the University of Malta's School of Medicine and Surgery. (sciencedaily.com)
While she couldn't sit up or roll over because of the weakness of her muscles, she was a little fighter who absolutely loved things like bath time and walks in her pram. (bluebellwood.org)
This causes progressive muscle weakness and muscle atrophy. (bmj.com)
Neuromuscular diseases are a group of disorders that affect the nerves and muscles, leading to weakness, muscle wasting, and functional impairment. (alliedacademies.org)
SMA children with the most severe form often face quickly increasing muscle weakness, leading to paralysis and death. (our-sma-angels.com)
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 motor neurons in the spinal cord and brain stem. (rarediseases.org)
Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. (medlineplus.gov)
leg muscle weakness can also lead to difficulty walking and a tendency to fall. (medlineplus.gov)
The nerve cells gradually die, leading to the muscle weakness and wasting seen in this condition. (medlineplus.gov)
The loss of functioning motor neurons leads to progressive muscle weakness and atrophy (the gradual decrease in the mass and strength of muscles), as muscles stop receiving signals from the CNS. (togetherinsma.com)
Individuals may experience progressive muscle weakness in the muscles closest to the center of the body, such as the shoulders, thighs, and pelvis. (togetherinsma.com)
The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the emergence of hand tremor, a prodromal sign of the disease. (kennedysdisease.org)
Spinal Muscular Atrophy (SMA) is a genetic disease that causes muscle weakness and progressive loss of mobility and strength. (threespiresphysiotherapy.co.uk)
The effects of spinal muscular atrophy are varied but in general include muscle weakness, reduced mobility, needing to use a wheelchair and in children delays in achieving motor milestones such as crawling. (threespiresphysiotherapy.co.uk)
The disease, which affects male adults, is characterized by muscle weakness and atrophy localized proximally in the limbs, and bulbar involvement. (nih.gov)
Despite several therapeutic attempts made in mouse models, no effective disease-modifying therapy is yet available, although symptomatic therapy is beneficial for the management of the weakness, fatigue and bulbar symptoms. (nih.gov)
Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower limb muscles. (bvsalud.org)
He had a striking waddling gait and proximal muscle weakness on neurological assessment. (bvsalud.org)
MND is characterised by the degeneration of primarily motor neurones, leading to muscle weakness. (nih.gov)
The presentation of the disease varies and can be as muscle weakness, wasting, cramps and stiffness of arms and/or legs, problems with speech and/or swallowing or, more rarely, with breathing problems. (nih.gov)
Whichever area the disease starts, as the disease progresses the pattern of signs and symptoms becomes similar, with increasing muscle weakness in the person's arms and legs, problems swallowing and communicating and weakness of the muscles used for breathing, which ultimately leads to death. (nih.gov)
It covers monitoring of disease progression, management of symptoms (in particular muscle weakness, excess secretions, breathing and nutrition problems), ongoing support and services, mobility, emotional and psychological changes, and preparation for end of life. (nih.gov)
Type ii is an intermediate form with an onset of muscle weakness before the age of 18 months. (web.app)
Type i sma werdnig hoffman disease is characterized by severe generalized muscle weakness and hypotonia at birth or by the age of 6 months. (web.app)
The symptoms include mild to moderate leg muscle weakness, tremors , and mild breathing problems. (medlineplus.gov)
These therapies may also improve blood flow and slow muscle weakness and atrophy. (medlineplus.gov)
Approximately 75% of patients with classic ALS also develop weakness and wasting of the bulbar muscles, which control speech, swallowing and chewing. (advancedpsy.com)
Muscle weakness and atrophy occur disproportionately on both sides of the body. (advancedpsy.com)
Symptoms include pharyngeal muscle weakness (muscles that are involved in swallowing), weak facial muscles, progressive loss of speech, and tongue muscle atrophy. (advancedpsy.com)
Progressive weakness of facial muscles leads to an expressionless face. (advancedpsy.com)
The loss of motor neurons leads to progressive muscle weakness and muscle wasting (atrophy) in muscles used for activities such as crawling, walking, sitting up, and controlling head movement. (genpharmservices.com)
Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. (genpharmservices.com)
Spinal Muscular Atrophy is a neuromuscular genetic disease that results in progressive muscle weakness. (actsma.co.uk)
This condition can cause various symptoms such as muscle weakness, loss of coordination, and cramping. (gshs.org)
There are different forms of motor neuropathy, one of which is multifocal motor neuropathy (MMN), a progressive muscle disorder characterized by weakness in the hands and varying muscle involvement on different sides of the body source . (gshs.org)
Motor neuropathy is a disorder that occurs when these motor nerves become damaged, which can lead to muscle weakness and various other symptoms. (gshs.org)
This disease leads to muscle weakness, wasting, and eventual paralysis of the voluntary muscles. (gshs.org)
MMN is a rare disorder characterized by slowly progressive muscle weakness , primarily in the arms and legs. (gshs.org)
The gene therapy, one of the world's most expensive drugs, offers promising results but experts caution that it is not a definitive solution for the rare nerve condition that leads to muscle wasting and weakness. (udayavani.com)
SMA is caused by mutations in the SMN gene, leading to muscle weakness and, in severe cases, paralysis and even death. (udayavani.com)
In the absence of enough functional SMN protein, motor neurons die, leading to debilitating and often fatal muscle weakness," Reddy told PTI. (udayavani.com)
SMA is a hereditary disease that causes weakness and muscle wasting because of the loss of lower motor neurons controlling movement. (formularywatch.com)
For young children with Spinal Muscular Atrophy (SMA), a rare genetic condition that causes progressive muscle weakness and wasting, NHS England has managed to secure three treatments in less than three years, where previously none were available. (england.nhs.uk)
Loss of these cells results in a progressive lower motor neuron disease that has no sensory involvement and that is manifested as hypotonia, weakness, and progressive paralysis. (medscape.com)
Soon after, Professor Johann Hoffmann from Heidelberg University presented a paper describing a syndrome of progressive atrophy, weakness, and death during the early childhood period of siblings with genetically normal parents. (medscape.com)
Patients with spinal muscular atrophy types III and IV usually present with an insidious onset of weakness, often following a brief period of illness, such as with influenza. (medscape.com)
It treats a group of rare genetic disorders called spinal muscular atrophies (SMAs) that cause loss of nerve cells that control skeletal muscles (muscles that allow us to move) leading to weakness. (medlineplus.gov)
Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
They described adult patients with a pelvic and femoral distribution of weakness and atrophy with a benign course. (medscape.com)
In 1884, Erb characterized a juvenile form of proximal muscle weakness. (medscape.com)
[ 3 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
Between 1909 and 1954, many individual case reports of primary muscle disease with a limb-girdle distribution of weakness were published. (medscape.com)
[ 9 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
Since the original descriptions of the condition, reports of many sporadic cases have been published with this pattern of muscle weakness associated with many other disorders. (medscape.com)
The Bethlem myopathy is an autosomal dominant or recessive disorder characterized by proximal and axial progressive muscle weakness, with flexion finger contractures (TAGLIAVINI et al. (bvsalud.org)
The patients present a medium weakness and atrophy of trunk and limbs muscles, with a proximal and extensors muscles most affected. (bvsalud.org)
The illness course is slow in most part of patients, and the progression of muscular weakness can occur in the fifth decade of life (TAGLIAVINI et al. (bvsalud.org)
Clinical features of PPS include fatigue, joint and muscle pain, new muscular weakness and bulbar symptoms. (bvsalud.org)
The onset of spinal poliomyelitis is associated with myalgia and severe muscle spasms, with the subsequent development of an asymmetrical, predominantly lower limb, flaccid weakness that becomes maximal after 48 h 2 . (bvsalud.org)

These disorders include motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which may involve motor neurons in the brain, spinal cord, and periphery, ultimately weakening the muscle. (medscape.com)
SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement. (pharmiweb.com)
Motor neuron diseases affect the motor neurons or cells in the brain and spinal cord that control the muscles. (sciencedaily.com)
The Spinal Cord Disorders Clinic provides care for children with spina bifida, spinal cord anomalies or acquired spinal cord injury. (archildrens.org)
Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. (medlineplus.gov)
Administration of gene therapy viruses into skeletal muscle, where distal terminals of motor and sensory neurons reside, has been shown to result in extensive transduction of cells within the spinal cord, brainstem, and sensory ganglia. (frontiersin.org)
Crucially, some viral vectors (i.e., viruses specifically used to deliver genetic material into cells) have the potential to circumvent the blood-brain- (BBB) and blood-spinal cord barriers (BSCB) when intravenously injected. (frontiersin.org)
SMA destroys nerve cells in the spinal cord that convey messages between the brain and muscles. (smasupport.com)
In spinal muscular atrophy, there is a loss of important cells in the spinal cord called motor neurons, which are essential for muscle strength and movement. (togetherinsma.com)
These motor neurons regulate muscle activity by sending signals from the central nervous system (CNS), which is the part of the body's nervous system that includes the brain and spinal cord. (togetherinsma.com)
Without a proper level of SMN protein, motor neurons in the spinal cord will be lost, preventing the muscles from receiving proper signals from the brain. (togetherinsma.com)
The command to move travels from the upper motor neurons on the brain's surface, down through the spinal cord and into the lower motor neurons. (vic.gov.au)
It is sometimes mistaken for the more common motor neurone disease (amyotrophic lateral sclerosis), a progressive nervous system disease characterised by the breaking down of neurones in the spinal cord and brain. (vic.gov.au)
Motor neurone disease (MND) is a neurodegenerative condition that affects the brain and spinal cord. (nih.gov)
Spinal muscular atrophy (SMA) is a neurodegenerative disease produced by low levels of Survival Motor Neuron (SMN) protein that affects alpha motoneurons in the spinal cord. (mdpi.com)
Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. (medlineplus.gov)
Normally, messages from nerve cells in the brain, called upper motor neurons, are transmitted to nerve cells in the brainstem and spinal cord called lower motor neurons and from there to particular muscles. (advancedpsy.com)
SMA is characterized by a loss of specialized nerve cells - motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). (genpharmservices.com)
Without this protein, lower motor neurons in the spinal cord degenerate and die. (genpharmservices.com)
Spinal Muscular Atrophy is a disease that affects the Nervous System in the Spinal Cord that controls voluntary muscle movement. (globalstemcells.com)
MORE: Spinal cord delivery options for SMA drugs and treatments. (smanewstoday.com)
Many medications and therapies for spinal muscular atrophy (SMA) need to reach the spinal cord to be effective. (smanewstoday.com)
However, this can be quite difficult to achieve as many medications have trouble crossing the blood-brain barrier that protects the spinal cord. (smanewstoday.com)
Commonly known as Lou Gehrig's disease, ALS is a progressive neurodegenerative disease that primarily affects motor neurons in the brain and spinal cord. (gshs.org)
Spinraza is an injection administered into the fluid surrounding the spinal cord. (formularywatch.com)
Patients were randomly assigned to receive an injection of Spinraza, into the fluid surrounding the spinal cord, or undergo a mock procedure without drug injection (a skin prick). (formularywatch.com)
Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that damage and kill motor neurons in the brain and spinal cord. (medscape.com)
Overview of the Peripheral Nervous System The peripheral nervous system refers to the parts of the nervous system that are outside the central nervous system, that is, those outside the brain and spinal cord. (msdmanuals.com)
Motor neuron diseases may involve the central nervous system (brain and spinal cord) as well as the peripheral nervous system (nerves outside the brain and spinal cord). (msdmanuals.com)
Muscle movement is initiated by nerve cells (neurons) that are located in the spinal cord and in the front part of the brain (called the motor cortex). (msdmanuals.com)
Nerve cells in the motor cortex connect with the nerve cells in the spinal cord that stimulate muscles to move (called motor nerves). (msdmanuals.com)
The impulse travels along a sensory nerve to the spinal cord. (msdmanuals.com)
The impulse crosses a synapse (the junction between two nerve cells) between the sensory nerve and a nerve cell in the spinal cord. (msdmanuals.com)
The impulse crosses from the nerve cell in the spinal cord to the opposite side of the spinal cord. (msdmanuals.com)
The impulse is sent up the spinal cord and through the brain stem to the thalamus, which is a processing center for sensory information, located deep in the brain. (msdmanuals.com)
Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. (medscape.com)
SMAs were first described in the 1890s, by Guido Werdnig, a physician from the University of Vienna, in his lecture "On a Case of Muscular Dystrophy with Positive Spinal Cord Findings. (medscape.com)
Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
Muscle atrophy, caused by a progressive loss of the anterior horn cells in the spinal cord, is universal. (medscape.com)
The very scientist who would prove the CNS to be comprised of cells, Spanish neuroscientist Santiago Ramón y Cajal, was barely a toddler and the idea of the spinal cord being an extension of the brain was just a hypothesis. (medscape.com)
This disease is caused by viral damage of motor neurons in the spinal cord. (bvsalud.org)

Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure. (medlineplus.gov)

There are many types of spinal muscular atrophy that are caused by changes in the same genes. (medlineplus.gov)
Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy , spinal muscular atrophy with lower extremity predominance , X-linked infantile spinal muscular atrophy , and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. (medlineplus.gov)
We aren't just a single gene functioning (or not functioning, in the case of disease), it's the combination of all of our genes," he said. (jax.org)
With mouse models, Cox can mix their genomes and map and identify modifier genes that can impact the onset and severity of different diseases. (jax.org)
We're hoping that identifying these modifier genes can give us insight into how to modify the disease. (jax.org)
The number of SMN2 genes may vary, and a higher SMN2 copy number is associated with less-severe symptoms of spinal muscular atrophy. (togetherinsma.com)
About 5-10% of people with MND have a family history of the disease and several abnormal genes have been identified. (nih.gov)
Hereditary diseases, also known as genetic disorders, are diseases that are passed down from one generation to the next through defective genes. (gimtravel.com)
This innovative approach aims to correct or replace faulty genes that cause rare diseases. (cryletter.com)
By delivering functional genes into the patient's cells, gene therapy offers the potential for long-term or permanent disease correction. (cryletter.com)
Because of this, gene therapies - treatments where certain genes are adjusted to treat someone's disease - are a promising approach for some diseases. (medlineplus.gov)
Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)
One promising approach uses an injection of small, harmless viruses to deliver therapeutic dystrophin-producing genes directly into cells in the muscle. (medlineplus.gov)
NIH-supported researchers have been studying ways to deliver dystrophin genes to affected muscles with fewer side effects. (medlineplus.gov)

Muscles contain the synaptic connection between lower motor neurons and muscle fibers, i.e., the neuromuscular junction (NMJ), as well as specialized sensory nerve endings (e.g., muscle spindles). (frontiersin.org)
In the central nervous system, lower motor neurons are selectively affected, whereas pathology of patients and animal models also indicates involvement of skeletal muscle including loss of fasttwitch type 2 fibres and increased slow-twitch type 1 fibres, together with a glycolytic-to-oxidative metabolic switch. (kennedysdisease.org)
When lower motor neurons are affected the results include gradual weakening and wasting away of the muscles and fasciculations (rapid twitching of muscles). (advancedpsy.com)
Both upper and lower motor neurons are affected. (advancedpsy.com)
Progressive Muscular Atrophy (PMA) is marked by slow but progressive degeneration of only the lower motor neurons. (advancedpsy.com)

April 11, 2022 -- Electric Bike Technologies, Inc. (EBT), the maker of the Liberty Trike, a unique folding and active-mobility tricycle, announced today that it will be donating 20 Liberty Trikes to children with limited mobility due to Spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and other physical challenges. (theautochannel.com)
Examples of rare diseases include cystic fibrosis, Huntington's disease, and Duchenne muscular dystrophy. (caprilletewine.com)
Roche has more than a dozen investigational medicines in clinical development for diseases that include multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimer's disease, Huntington's disease, Parkinson's disease, Duchenne muscular dystrophy and autism. (varsome.com)
Drug repurposing has yielded promising results in rare diseases such as cystic fibrosis and Duchenne muscular dystrophy. (cryletter.com)
This article describes two rare diseases - spinal muscular atrophy and Duchenne muscular dystrophy - and how NIH supports research and development on gene therapies to treat them. (medlineplus.gov)
Duchenne muscular dystrophy (or DMD) is the most common muscular dystrophy in children, and it mostly affects boys in early childhood. (medlineplus.gov)
Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)

Read our 11 fast facts about spinal muscular atrophy. (smanewstoday.com)

Mutations in the SMN1 gene cause all types of spinal muscular atrophy described above. (medlineplus.gov)
The prevalence of all types of spinal muscular atrophy has been estimated to be 47. (web.app)
What are the types of spinal muscular atrophy (SMA) and what are their symptoms? (medlineplus.gov)

What are the effects of spinal muscular atrophy? (togetherinsma.com)

Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). (medlineplus.gov)
Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. (medlineplus.gov)
Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. (medlineplus.gov)
The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat . (medlineplus.gov)
In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. (medlineplus.gov)
People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age. (medlineplus.gov)
Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (medlineplus.gov)
Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (medlineplus.gov)
Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. (kennedysdisease.org)
Kennedy's disease is also known as X-linked spinal bulbar muscular atrophy (SBMA). (vic.gov.au)
Kennedy's disease causes the loss of motor neurone cells, including those in the brain stem that supply the bulbar muscles. (vic.gov.au)
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. (nih.gov)
The disorder progresses gradually over years and usually affects the legs first, followed by the trunk, arms and hands and finally the bulbar muscles. (advancedpsy.com)

Amyotrophic lateral sclerosis (ALS) affects adults while spinal muscular atrophy (SMA) mostly strikes young children. (sciencedaily.com)
These diseases include conditions such as muscular dystrophy, spinal muscular atrophy, myasthenia gravis, and amyotrophic lateral sclerosis (ALS). (alliedacademies.org)
Cox studies the genetics of degenerative muscle diseases using mouse models for spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), muscular dystrophy and more. (jax.org)
Amyotrophic Lateral Sclerosis (ALS) is also called Lou Gehrig's disease and is a progressive, ultimately fatal disorder that eventually disrupts signals to all voluntary muscles. (advancedpsy.com)
In this section, we will discuss some of the most common forms of motor neuropathy, including amyotrophic lateral sclerosis (ALS) , multifocal motor neuropathy (MMN) , primary lateral sclerosis, spinal muscular atrophy, and Kennedy's disease. (gshs.org)
Amyotrophic lateral sclerosis (Lou Gehrig disease) is the most common form of motor neuron disease. (msdmanuals.com)
He also delved into neurosyphilis, multiple sclerosis, and amyotrophic lateral sclerosis (or Charcot disease, as it's called in France). (medscape.com)

Spinal muscular atrophy (SMA) is caused by mutations that reduce the level of the survival motor neuron protein (SMN) resulting in death of alpha-motor neurons, yet it is unclear why these cells are preferentially affected by a reduction in this ubiquitously-expressed protein. (benthamscience.com)

The pivotal study assessed the efficacy of risdiplam (RG7916) in infants with type 1 spinal muscular atrophy (SMA), the most severe, infantile onset form of this rare and devastating neuromuscular disease. (pharmiweb.com)
If I can make a disease less severe, or if I can delay the onset of symptoms for 50 years, I am happy to make whatever impact I can," he said. (jax.org)
Spinal muscular atrophy affects everyone differently, and it is important to note that symptoms can vary greatly according to the age of onset and disease severity. (togetherinsma.com)
These early defects are followed by loss of the NMJ, denervation of the muscle and onset of muscle atrophy. (benthamscience.com)
INTERPRETATION: The presence of very early relapses and delayed early relapses within 12 months of onset in patients with MOGAD increases the risk of long-term relapsing disease, whereas a relapse within 90 days appears not to indicate a chronic inflammatory process in young pediatric-onset disease. (bvsalud.org)
Type l is also called Werdnig-Hoffman disease or infantile-onset SMA. (medlineplus.gov)
It largely affects men with onset earlier than other MNDs. (advancedpsy.com)
When the disease onset is between the age of three and 15 months and before the child can stand or walk independently, it is called SMA type 2. (udayavani.com)
The age of onset for spinal muscular atrophy is discussed above in the Background section. (medscape.com)

Finsterer J. Perspectives of Kennedy's disease. (medlineplus.gov)
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs. (vic.gov.au)
Kennedy's disease is caused by a genetic mutation of the androgen receptor gene on the X chromosome. (vic.gov.au)
These muscles control the throat, which is why swallowing, breathing and speech problems are common symptoms of Kennedy's disease. (vic.gov.au)
This is because boys only receive one X chromosome and, if that has the mutated gene, they will one day develop the symptoms of Kennedy's disease. (vic.gov.au)
However, it is not known why this gene mutation causes the other symptoms of Kennedy's disease. (vic.gov.au)
Since Kennedy's disease is rare, it can be misdiagnosed. (vic.gov.au)
Blood test to check for elevated serum creatine kinase (CPK) - people with Kennedy's disease usually have a greater than average amount of this particular enzyme circulating in their blood. (vic.gov.au)
Genetic tests using a blood sample - this test can check whether the Kennedy's disease gene is present, even if the person is asymptomatic or a carrier. (vic.gov.au)
There is no cure for Kennedy's disease, because medical science doesn't know how to regenerate muscle neurones. (vic.gov.au)

Moreover, USP7 knockdown suppressed disease phenotypes in SBMA and spinocerebellar ataxia type 3 (SCA3) fly models, and monoallelic knockout of Usp7 ameliorated several motor deficiencies in transgenic SBMA mice. (kennedysdisease.org)
Split hand is not specific to ALS and can be caused by the peripheral mechanism alone in SBMA, whereas the effect of upper motor neuron lesion cannot be excluded in ALS. (kennedysdisease.org)
The treatment with the pituitary adenylyl cyclase-activating polypeptide (PACAP), a neuropeptide with a proven protective effect in a mouse model of SBMA, recovered chloride channel current alterations in SBMA cells. (kennedysdisease.org)
These observations suggest that the CIC-2 currents are affected in SBMA, an alteration that may contribute and potentially determine the pathophysiology of the disease. (kennedysdisease.org)

Spinal Muscular Atrophy is a rare genetic disease. (globalstemcells.com)
Introduction to Norrie's Disease Norrie Disease is a rare genetic disorder that primarily affects the male population. (gimtravel.com)
Zolgensma, developed by Swiss pharmaceutical company Novartis, is designed to treat SMA, a rare genetic disease affecting motor neurons - complex circuits throughout the body that allow for movements of glands and muscles. (udayavani.com)
For example, Spinal Muscular Atrophy (SMA), a rare genetic disorder affecting muscle strength and movement, has been successfully treated using gene therapy. (cryletter.com)

SMN protein is found throughout the body and increasing evidence suggests SMA is a multi-system disorder and the loss of SMN protein may affect many tissues and cells, which can stop the body from functioning. (pharmiweb.com)
Spinal muscular atrophy (SMA) is a progressive, autosomal recessive neuromuscular disorder caused by a mutation of the SMN1 gene. (bmj.com)
It is a relatively common 'rare disorder': approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers. (our-sma-angels.com)
Spinal muscular atrophy 1 (SMA1) , also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). (rarediseases.org)
NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. (rarediseases.org)
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. (bvsalud.org)
Surprisingly, he also demonstrated a brisk crossed adductor response that was not in keeping with an isolated primary neuro-muscular disorder and suggested a mixed upper and lower motor neuron pathology. (bvsalud.org)
MND is a disorder which can affect adults of any age. (nih.gov)
Both parents unknowingly carry the gene for the disorder, and when the child inherits the defective gene from both parents, the disease develops. (web.app)
Spinal muscular atrophy is a genetic disorder characterized by. (web.app)
Pdf spinal muscular atrophy type 1 sma1, or werdnighoffmann disease type 1, is an inherited neuromuscular disorder characterized by. (web.app)
Werdnighoffmann disease is a rare disorder that affects males and females in equal numbers. (web.app)
The disorder is not fatal but may affect quality of life and often develops into ALS. (advancedpsy.com)
According to the Muscular Dystrophy Association of New Zealand, there are some vaccinations that all people who have a neuromuscular disorder should have on an annual basis, as well as other considerations to make about vaccinations. (smanewstoday.com)
Motor neuropathy is a neurological disorder that affects the body's motor nerves, which are responsible for controlling muscle movements. (gshs.org)
Genetics and Pathophysiology of SMA SMA genetic disease is categorized as an autosomal recessive disorder. (gimtravel.com)
A genetic disorder that causes damage to the peripheral nerves bears his name too (Charcot-Marie-Tooth disease). (medscape.com)

SMA patients inherit a flaw in the Survival Motor Neuron (SMN) gene that decimates the levels of the SMN protein, causing motor neurons and associated muscles to die. (sciencedaily.com)
A few females with mutations in both copies of the gene have had mild features related to the condition, including muscle cramps and occasional tremors. (medlineplus.gov)
Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
SMA is usually caused by a defective gene inherited from both parents, and there is a 1 in 4 chance the disease will be passed to a child. (smasupport.com)
One in 40 people carry the gene, which affects on in every 6,000 newborns. (smasupport.com)
In the future, with new tools at our disposal, Cox says, we will be able to understand the genetics of both rare and more common diseases, not just the gene itself. (jax.org)
Spinal muscular atrophy is caused by a mutation in the survival motor neuron 1 ( SMN1 ) gene. (togetherinsma.com)
In individuals with spinal muscular atrophy, both copies of the SMN1 gene are mutated, leading to decreased production of SMN protein. (togetherinsma.com)
Spinal muscular atrophy is an autosomal recessive disease, which means that for a individual to be at risk, he or she must inherit 1 mutated SMN1 gene from each parent. (togetherinsma.com)
If a child inherits only 1 mutated SMN1 gene, they are considered a "carrier," but usually do not have symptoms of spinal muscular atrophy. (togetherinsma.com)
Many laboratories and hospitals offer spinal muscular atrophy carrier screening to determine whether 1 or both parents are carriers of the mutated SMN1 gene. (togetherinsma.com)
Since the disease is recessive, the presence of the normal gene on the other X chromosome means that girls don't develop the symptoms of disease, because the normal gene overrides the mutated one. (vic.gov.au)
However, these girls will be carriers, and each son of a carrier mother has a 50 per cent chance of inheriting the gene and developing the disease. (vic.gov.au)
The inherited neuropathy gene panel revealed a heterozygous sequence change in the DYNC1H1 gene which was present in all affected family members. (bvsalud.org)
In clinical trials, infants who received gene therapy demonstrated improved muscle strength and function. (caprilletewine.com)
Zolgensma delivers a functional copy of the SMN gene into motor neuron cells, improving muscle movement and function in children with SMA," explained Dr N Varsha Monica Reddy, consultant paediatric neurologist, Yashoda Hospitals, Hyderabad. (udayavani.com)
A gene therapy may be able to help babies with type 1 spinal muscular atrophy (SMA). (smanewstoday.com)
Gene therapy has already shown promising results in treating various rare diseases. (cryletter.com)
Additionally, gene therapy has shown promising results in treating rare blood disorders such as beta-thalassemia and sickle cell disease. (cryletter.com)
Gene therapy, precision medicine, and drug repurposing are among the innovative approaches that offer potential cures and improved outcomes for rare diseases. (cryletter.com)
Most rare diseases (almost 80%) are caused by a defect in a single gene. (medlineplus.gov)
These treatments "fix" the genetic mutations (harmful changes) that cause some diseases by replacing or changing a gene that doesn't work with one that does. (medlineplus.gov)
In some rare diseases, DNA mutations cause a gene or protein to work incorrectly. (medlineplus.gov)
It helps muscles and nerves work properly by changing the SMN2 gene product to make more of the SMN protein than it usually would. (medlineplus.gov)
There's another gene-based therapy for children under age 2 that uses a safe virus to deliver a new copy of the SMN gene into specific neurons to improve muscle movement. (medlineplus.gov)
There's no cure for DMD, but there are treatments that can help with the symptoms, including gene-based therapies that help the muscles make more dystrophin. (medlineplus.gov)
Because muscles make up a large portion of our body mass, the dose of viral gene-based therapy needs to be very high to be effective, which can cause unwanted side effects. (medlineplus.gov)

He is part of the Laboratory's Rare and Orphan Disease Center , which addresses conditions that, while individually rare (by definition, affecting fewer than 200,000 people in the U.S.), collectively affect about one in 10 Americans, according to the National Organization for Rare Disorders, and thus represent a major health issue. (jax.org)
Werdnighoffmann disease nord national organization for rare. (web.app)

Spinal muscular atrophy genetics home reference nih. (web.app)

SMN1 helps the body make an important protein that keeps the nerves that control muscle movement healthy. (medlineplus.gov)

Known as infantile sma, werdnig hoffmann is a rare, inherited, autosomal recessive neuromuscular disease. (web.app)
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease affecting the part of the nervous system that controls voluntary muscle movement. (genpharmservices.com)

Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital). (medlineplus.gov)
Bethlem myopathy (BM) and Ullrich Congenital Muscular Dystrophy (DMCU) result from a mutation in collagen type VI. (bvsalud.org)
Ullrich Congenital Muscular. (bvsalud.org)

Nineteen out of 21 infants enrolled (90%) remain alive with two having discontinued due to the fatal progression of their disease. (myscience.ch)
This has meant that many patients have had to delay vital assessments, such as lung function tests, which are essential for monitoring disease progression and assessing the need for respiratory support. (alliedacademies.org)
Each child is affected so differently by SMA that they do not all follow the same path or progression. (our-sma-angels.com)
Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. (kennedysdisease.org)
There are rarer forms of MND such as progressive muscular atrophy and primary lateral sclerosis, which may have a slower rate of progression. (nih.gov)
Every person with MND has an individual progression of the disease. (nih.gov)
The major difference between ALS and PLS are the motor neurons involved and the rate of the disease progression. (advancedpsy.com)
It believes that Stem Cell Treatment could slow down the progression of the disease or even alleviate the conditions patients have. (globalstemcells.com)
Although a cure for SMA has yet to be discovered, interventions may improve quality of life and slow disease progression. (medscape.com)
however, disease progression is more severe in males. (medscape.com)
Patients with polio may experience progression with new symptoms decades after the acute disease. (bvsalud.org)

Muscular Dystrophy Association (MDA). (genpharmservices.com)

Young patients with spinal muscular atrophy (SMA) have a shortage of the survival motor neuron protein. (sciencedaily.com)
ThreeSpires Physiotherapy offers neurological physiotherapy for patients with Spinal Muscular Atrophy. (threespiresphysiotherapy.co.uk)
Here at ThreeSpires Physiotherapy we understand how to manage and help patients with spinal muscular atrophy at all stages of the disease. (threespiresphysiotherapy.co.uk)

Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. (medlineplus.gov)
Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. (pharmiweb.com)
Nature figured out how to make the disease less severe, how can we do the same? (jax.org)
Our data suggest that longer AR CAG score is associated with more severe COVID-19 disease. (kennedysdisease.org)
Werdnighoffmann disease is the most severe type of spinal muscular atrophy sma. (web.app)
In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. (genpharmservices.com)
Type I (Werdnig-Hoffmann disease) - the most severe type. (genpharmservices.com)
In severe cases, motor neuropathy can lead to overall muscle wasting, and it may impact other body functions as well. (gshs.org)
Doses of less than 0.4 mg may be sufficient in less severe conditions while severe and life-threatening diseases may require up to 20 mg or more a day. (who.int)

The neuromuscular junction may also be directly involved in diseases such as myasthenia gravis (MG). (medscape.com)

The pandemic has also accelerated the development of new treatments and therapies for neuromuscular diseases. (alliedacademies.org)
Researchers have been working to identify potential treatments for COVID-19, many of which may also have implications for the treatment of neuromuscular diseases. (alliedacademies.org)
This occurred because treatments are being developed that are changing the course of the disease. (rarediseases.org)
What are the treatments for spinal muscular atrophy (SMA)? (medlineplus.gov)
Research is currently being carried out into possible treatments for spinal muscular atrophy (SMA). (genpharmservices.com)
However, in recent years, there have been significant advancements in rare disease treatments that offer hope to patients and their families. (caprilletewine.com)
One of the most promising advancements in rare disease treatments is the development of genetic therapies. (caprilletewine.com)
Another significant advancement in rare disease treatments is the emergence of precision medicine. (caprilletewine.com)
This approach recognizes that each patient's disease is unique and seeks to tailor treatments accordingly. (caprilletewine.com)
Recognizing this need, there has been a growing emphasis on fostering partnerships and sharing knowledge to accelerate progress in rare disease treatments. (caprilletewine.com)
While advancements in rare disease treatments offer hope, it is crucial to ensure that these therapies are accessible to all who need them. (caprilletewine.com)
Many rare disease treatments are costly, making them inaccessible to patients without adequate insurance coverage or financial resources. (caprilletewine.com)
Furthermore, efforts are underway to streamline the regulatory processes for rare disease treatments, expediting their approval and availability. (caprilletewine.com)
The advancements in rare disease treatments provide immense hope for patients and their families. (caprilletewine.com)
Continued research, investment, and advocacy are vital to further our understanding of rare diseases and develop innovative treatments. (caprilletewine.com)
However, treatments can help manage symptoms and improve quality of life for those affected. (gshs.org)
Another significant advancement in rare disease treatments is the development of precision medicine. (cryletter.com)
Advancements in rare disease treatments have been made possible through collaboration between various stakeholders, including researchers, pharmaceutical companies, patient advocacy groups, and regulatory agencies. (cryletter.com)
In conclusion, advancements in rare disease treatments have brought renewed hope to individuals and families affected by these conditions. (cryletter.com)
Researching and developing new treatments for rare diseases is time consuming, complex, and often expensive. (medlineplus.gov)
Because specific rare diseases generally only affect a few hundred people, pharmaceutical companies aren't usually interested in developing treatments for them. (medlineplus.gov)

The term muscular dystrophy (MD) refers to a heterogeneous group of genetic disorders that typically result in progressive degeneration followed by incomplete regeneration of skeletal muscles, ultimately resulting in the loss of contractile tissue. (medscape.com)
Motor Neuron Diseases (MNDs) are a group of progressive neurological disorders that destroy motor neurons, the cells that control essential voluntary muscle activities such as speaking, walking, breathing and swallowing. (advancedpsy.com)
Motor neuropathy is a group of disorders that affect the nerves responsible for controlling muscle movements. (gshs.org)
These kinds of genetic medicines also have the potential for treating genetic defects that cause other neurological disorders including other rare muscular disorders. (medlineplus.gov)
Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)
Temporomandibular disorders (TMD) are usually diagnosed by means of comprehensive review of patient history and clinical examination and the symptoms are pain/ discomfort in the jaw, mainly in the region of the temporomandibular joints (TMJs) and/or masticatory muscles, limitation of mandibular function and/or TMJ sounds. (bvsalud.org)

We observed 55 patients (children/adolescents) diagnosed with spinal muscular atrophy (SMA), who received nusinersen therapy. (nih.gov)
There have been quite a few stories about the amazing effects of Spinraza (nusinersen) on young children and babies with spinal muscular atrophy (SMA), but this video shows how older children and adults can also benefit from the new drug. (smanewstoday.com)
FDA approved nusinersen (Spinraza, Biogen), the first drug to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement. (formularywatch.com)
A medication called nusinersen was one of the first genetic therapies approved for a rare disease. (medlineplus.gov)

Werdnig hoffmann disease, type ii and, type iii also called kugelberg welander disease. (web.app)
Type lll is also called Kugelberg-Welander disease. (medlineplus.gov)

People with spinal muscular atrophy type III typically have a normal life expectancy. (medlineplus.gov)
The course of the disease is slowly progressive with normal life expectancy. (nih.gov)

Primary Lateral Sclerosis (PLS) affects only upper motor neurons and is nearly twice as common in men as in women. (advancedpsy.com)

Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. (medlineplus.gov)
Patients with neuromuscular diseases may also require frequent hospitalizations for respiratory support or other complications. (alliedacademies.org)
Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. (our-sma-angels.com)
A common cold can easily turn into pneumonia which is what usually takes the lives of these children, along with 'respiratory failure' or when they no longer have the lung or chest muscles to be able to breathe on their own. (our-sma-angels.com)

It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. (medlineplus.gov)
It occurs when specific nerve cells in the cerebral cortex (the grey matter of the brain) that control voluntary movement gradually degenerate, causing the muscles under their control to weaken. (advancedpsy.com)
Spinal muscular atrophy is a disease that affects nerve cells that transmit motion signals. (044.eu)
Motor neuron diseases are characterized by progressive deterioration of the nerve cells that initiate muscle movement. (msdmanuals.com)
In motor neuron diseases, these nerve cells progressively wither away and the peripheral nerves that connect them to the muscle deteriorate. (msdmanuals.com)

Her breathing will become more labored as she grows because her chest muscles will weaken. (smasupport.com)
As the motor neurons die off, your muscles start to weaken and atrophy (waste away). (medlineplus.gov)
As a result, muscles weaken, waste away (atrophy), and can become completely paralyzed even though the muscles themselves are not the cause of the problem. (msdmanuals.com)

What causes spinal muscular atrophy? (togetherinsma.com)

It affects both children and adults and can have a significant impact of function. (threespiresphysiotherapy.co.uk)
Adults with spinal muscular atrophy will be assessed by a neurological physiotherapist who would identify key areas to work and focus upon in order to maximise function and quality of life. (threespiresphysiotherapy.co.uk)
Due to the degenerative nature of the disease, babies, kids and adults with SMA will experience a decline in muscle strength over time although the rate and severity can vary among individuals. (theautochannel.com)

The field of pediatric skeletal muscle channelopathies has seen major new advances in terms of a wider understanding of clinical presentations and new phenotypes. (bvsalud.org)
Skeletal muscle channelopathies cause significant disability and even death in some of the newly described phenotypes. (bvsalud.org)
Skeletal muscle consists of 2 major components: the sarcolemma and the sarcomeres. (medscape.com)
There is a role of integrity maintenance and skeletal muscle function (TAGLIAVINI et al. (bvsalud.org)

Deguise also observed that SMA affected the development of infection-fighting cells called T-cells in the thymus, another immune organ. (ohri.ca)
However, in humans and flies, when there is a shortfall in the SMN protein, only motor neurons and muscle cells become sick, while the rest mostly survive. (sciencedaily.com)
Without it, damage to muscle cells build up causing the muscles to get weaker and break down. (medlineplus.gov)

SMA starts in the central nervous system and affects all the muscles in the body. (theautochannel.com)
It's a genetic disease that attacks the central nervous system, affecting the muscles' ability to receive signals which leads to them not developing properly. (bvmsports.com)
Roche is the world's largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. (varsome.com)
The company's goal is to develop treatment options based on the biology of the nervous system to help improve the lives of people with chronic and potentially devastating diseases. (varsome.com)

Werdnighoffmann disease is a form of sma and is otherwise called sma type 1 sma1. (web.app)

The voluntary muscles are affected, including those involved in swallowing and breathing. (bmj.com)
The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. (our-sma-angels.com)

In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)

NMDs also include peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT), which affect not only motor but also sensory nerves. (medscape.com)
Traditionally considered a disease of the nerves controlling the muscles, Deguise found that this condition also affects other organs. (ohri.ca)
It was thought that SMA affected only the nerves controlling the muscles, but Deguise's discovery suggests that it also impacts the immune system. (ohri.ca)
Eleanor was diagnosed with Spinal Muscular Atrophy (SMA) Type One - a genetic neuromuscular disease which affects nerves responsible for muscle function. (bluebellwood.org)
The brain controls the movement of muscles with nerves. (vic.gov.au)
Sensory neuropathy impacts the nerves responsible for feeling, such as pain and temperature, while autonomic neuropathy affects the involuntary nerves that control various organs in the body, including the heart, blood pressure, and intestines source . (gshs.org)
Motor neuropathy is a type of peripheral neuropathy that specifically affects the motor nerves. (gshs.org)
These nerves are responsible for controlling muscle movements and strength in the body, such as lifting objects, walking, and maintaining balance. (gshs.org)
There are different types of motor neuropathies, including multifocal motor neuropathy (MMN), which is a rare disease that affects the body's motor nerves . (gshs.org)
As a result, the muscles stimulated by these nerves deteriorate, become weak, and no longer function normally. (msdmanuals.com)
Moving a muscle usually involves communication between the muscle and the brain through nerves. (msdmanuals.com)

Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. (nih.gov)
This page gives a brief overview of Spinal Muscular Atrophy and how neurological physiotherapy can be helpful. (threespiresphysiotherapy.co.uk)
If you or someone you know has spinal muscular atrophy and you would like to find out more about how neurological physiotherapy might be able to help then please get in touch. (threespiresphysiotherapy.co.uk)

Affected infants move less in the womb, and as a result they are often born with joint deformities (contractures). (medlineplus.gov)
Part 1 of the trial showed that infants with type 1 SMA survived and achieved developmental milestones beyond those expected in the natural course of the disease. (pharmiweb.com)
We are highly encouraged by these data showing infants treated with risdiplam surviving and achieving developmental milestones beyond the natural history of this devastating disease," said Sandra Horning, MD, Roche's Chief Medical Officer and Head of Global Product Development. (myscience.ch)
ranging from Stage I being seen in young infants up to 6 months of age, to Stage IV cases which affects those up to 35 years or older of age. (globalstemcells.com)
There has been a long-standing need for a treatment for spinal muscular atrophy, the most common genetic cause of death in infants, and a disease that can affect people at any stage of life," said Billy Dunn, MD, director of the Division of Neurology Products in FDA's Center for Drug Evaluation and Research. (formularywatch.com)

SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one s body - i.e. shoulders, hips, and back) are often most severely affected. (our-sma-angels.com)

Anatomy68

Organisms11

Diseases68

Chemicals and Drugs34

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Psychiatry and Psychology2

Phenomena and Processes41

Disciplines and Occupations3

Information Science3

Health Care5

Weakness70

Cord41

Children with spinal muscula1

Genes14

Lower motor n5

Duchenne7

Facts About Spinal Muscula1

Types of spinal muscula3

Effects of spinal muscula1

Bulbar13

Amyotrophic7

Caused by mutations1

Onset9

Kennedy's10

SBMA4

Rare genetic4

Disorder17

Gene28

National Organization2

Genetics home reference1

SMN11

Autosomal recessive neuromuscular disease2

Congenital3

Progression11

Dystrophy Association1

Patients with spinal3

Severe9

Myasthenia gravis1

Treatments21

Disorders6

Nusinersen4

Called Kugelberg-Welande2

Normal life expectancy2

Primary lateral s1

Respiratory4

Nerve cells5

Weaken3

Causes spinal1

Adults3

Skeletal muscle4

Cells3

Nervous system4

SMA11

Voluntary muscles2

Dystrophies1

Nerves11

Neurological3

Infants5

Proximal muscles1