Rare disease disease spinal muscular atrophy muscular atrophy spinal. Medical search. Frequent questions

Medications that target the genetic cause of the disease include nusinersen, risdiplam, and the gene therapy medication onasemnogene abeparvovec. (wikipedia.org)
Due to the complexity of the management of this rare disease, the Committee reiterates that it recommends that decisions to initiate or discontinue treatment with SPINRAZA (nusinersen) be taken at multidisciplinary review meetings in neuromuscular diseases reference and expertise centres. (has-sante.fr)
A medication called nusinersen was one of the first genetic therapies approved for a rare disease. (medlineplus.gov)
Then Biogen discovered the wildly successful Spinraza (Nusinersen), which treats spinal muscular atrophy (SMA), a rare genetic disease that is fatal if untreated. (genengnews.com)
The rise in attempts to enhance the alternatives for treating rare diseases and the surge in demand for pharmaceuticals like Nusinersen, Onasemnogene Abeparvovec, and others that are used in their treatment is driving the market's expansion. (emailwire.com)

There is currently no treatment for the pre-symptomatic management of SMA, apart from ZOLGENSMA (onasemnogene abeparvovec) available via a compassionate use programme (ATU dated 15/05/2020), and having been granted an MA on 18/05/2020 in patients with 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene and up to three copies of the SMN2 gene, which the Committee has not yet evaluated. (has-sante.fr)
Zolgensma® (onasemnogene abeparvovec: first gene therapy treatment derived partly from research conducted at Genethon ) for spinal muscular atrophy linked to SMN1. (afm-telethon.fr)
Novartis presented new data which underscore the transformational and sustained benefit of Zolgensma® (onasemnogene abeparvovec), an essential one-time gene therapy for the treatment of spinal muscular atrophy (SMA). (worldpharmanews.com)
2,3) These data are among a Zolgensma data set being presented during the 2023 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, which also include, in part, real-world evidence data from the RESTORE registry. (worldpharmanews.com)
The most expensive drug in the world is Zolgensma, which treats spinal muscular atrophy and costs about $2.1 million for a one-time treatment. (medscape.com)
We'll also discuss Zolgensma, onasemnogene abeparvovec-xioi, a gene therapy that addresses the genetic root cause of the disease with a one-time dose, and its potentially transformative impact on babies and young children diagnosed with SMA. (reachmd.com)

Spinal muscular atrophy type 4 (late-onset) can be recessive, dominant, or X-linked, with adult onset (age 30 to 60 years) and slow progression of primarily proximal muscle weakness and wasting. (msdmanuals.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)
Loss of these neurons in the spinal cord prevents signalling between the brain and skeletal muscles. (wikipedia.org)
Progressive multifocal leukoencephalopathy (PML) is a neurological disorder characterized by destruction of the myelin, an oily substance that helps protect nerve cells in the brain and spinal cord, also known as central nervous system (CNS) white matter. (howstuffworks.com)
Paraneoplastic neurologic syndromes (PNS) are a group of conditions that affect the nervous system (brain, spinal cord, nerves and/or muscles) in patients with cancer. (howstuffworks.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)
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)
SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement. (pharmiweb.com)
Spinal muscular atrophy (SMA) is an autosomal recessive, inherited genetic disease characterized by degeneration of alpha motor neurons in the spinal cord. (dovepress.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)
SMA causes weakness of muscles due to cells dying in the spinal cord. (uky.edu)
The treatments can preserve the health of the cells of the spinal cord, but if those cells are already dead, they cannot be brought back. (uky.edu)
Spinal muscular atrophies include several types of hereditary disorders characterized by skeletal muscle wasting due to progressive degeneration of anterior horn cells in the spinal cord and of motor nuclei in the brain stem. (msdmanuals.com)
Muscle atrophy, caused by a progressive loss of the anterior horn cells in the spinal cord, is universal. (medscape.com)
Spinal muscular atrophy (SMA) is a reces- stands out as a noninvasive and painless method, sive, autosomal neuromuscular disease character- which has already been adopted by other authors ized by degeneration of anterior horn spinal cord while evaluating SMA patients13, or children and motor cells and brain stem neurons1-5. (bvsalud.org)
This disease is caused by viral damage of motor neurons in the spinal cord. (bvsalud.org)

Spinal muscular atrophy is due to an abnormality (mutation) in the SMN1 gene which encodes SMN, a protein necessary for survival of motor neurons. (wikipedia.org)
Another gene, SMN2, is considered a disease modifying gene, since usually the more the SMN2 copies, the milder is the disease course. (wikipedia.org)
Favourable opinion for reimbursement in the treatment of pre-symptomatic infants and children with genetically diagnosed 5q spinal muscular atrophy with 2 to 3 copies of the SMN2 gene. (has-sante.fr)
Therapeutic improvement in the treatment of pre-symptomatic infants and children with genetically diagnosed 5q spinal muscular atrophy with 2 to 3 copies of the SMN2 gene. (has-sante.fr)
Gene therapy trial to assess a microdystrophin (abbreviated version of the Duchenne muscular dystrophy gene) associated with an AVV vector. (afm-telethon.fr)
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)
PARIS--( BUSINESS WIRE )--Genethon, a pioneer in gene therapy, said today the French government's support of the GenoTher Biocluster validates the efforts of its founding organizations in creating a global center of excellence in gene therapy and establishes their work and dedication as a national priority for advancing gene therapies to treat both rare and common diseases. (businesswire.com)
A pioneer in the discovery and development of gene therapies for rare diseases, Genethon is a unique non-profit organization created by a patient association, the AFM-Telethon. (businesswire.com)
A first gene therapy drug, to which Genethon contributed, has obtained marketing for spinal muscular atrophy. (businesswire.com)
The study reports that a novel second-generation hSMN1-AAV gene therapy vector, consisting of an endogenous SMN1 promoter and codon-optimized human SMN1 transgene in two different AAV serotypes, outperformed the benchmark gene therapy across several endpoints, including lifespan, weight gain and motor functions, in a mouse model of spinal muscular atrophy (SMA) when administered via intracerebroventricular (ICV) delivery. (biospace.com)
The CANbridge Next-Generation Innovation and Process Development Facility is developing novel, potentially curative, gene therapies for rare genetic diseases, including Pompe disease, Fabry disease, spinal muscular atrophy (SMA) and other neuromuscular conditions, and collaborates with world-leading researchers and biotech companies. (biospace.com)
A mutation in a single gene can cause a devastating genetic disease, such as cystic fibrosis, and collectively mutations cause from 7,000 to 10,000 different rare diseases. (jax.org)
both experts in mouse models of human disease, are the principal investigators of the NIH-funded JAX The center will use the latest gene-editing technology to develop new mouse models of specific genetic diseases, characterize the models to ensure they reflect the human disease, and make the mice and data available to the worldwide scientific community. (jax.org)
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a mutation in a motor neuron gene. (jax.org)
For example, in the next few years a gene therapy cure for sickle cell disease is expected to become available but may cost about $1.85 million per patient. (medscape.com)
This is a summary of the article "New gene therapies may soon treat dozens of rare diseases, but million-dollar price tags will put them out of reach for many" published by The Conversation on August 31. (medscape.com)
Cite this: Gene Therapies Could Treat Rare Diseases - but Cost Millions - Medscape - Dec 29, 2021. (medscape.com)
The US Food and Drug Administration on Tuesday approved Bluebird Bio's gene therapy for a rare inherited blood disease. (bostonglobe.com)
The therapy treats the severe form of a disease called beta thalassemia, where a genetic mutation in the beta-globin gene impairs the ability of blood cells to carry oxygen throughout the body. (bostonglobe.com)
Most rare diseases (almost 80%) are caused by a defect in a single gene. (medlineplus.gov)
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)
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)
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)
In some rare diseases, DNA mutations cause a gene or protein to work incorrectly. (medlineplus.gov)
In 2018, RNA therapy first came on the scene with a drug that treats a genetic disease called hereditary TTR-mediated amyloidosis (hATTR), caused by mutations in the transthyretin (TTR) gene. (genengnews.com)
During this webinar, the speakers will present their respective studies on gene therapy in Duchenne muscular dystrophy, spinal muscular atrophy (SMA) and hemophilia. (ispor.org)
They will discuss the importance of the disease context, the qualitative research that influenced attribute selection, the selection of health preference method and design of the health preferences' tasks, and how the study findings relate to the potential value of gene therapy. (ispor.org)
The global Spinal Muscular Atrophy (SMA) Treatment Market on the basis of Treatment, the market is bifurcated into Gene and Therapy. (emailwire.com)
Gene therapy, and sometimes these are referred to as genetically modified cellular therapies, are treatments that directly modify a patient's genes or genetic code in order to treat or cure their disease. (optum.com)
The second category, which is what most people probably think of when they think of gene therapies, are the non-oncology gene therapies that are used to treat diseases caused by genetic defects. (optum.com)
A great example of this difference between your more standard type of drug treatment versus gene therapy is how we treat hemophilia B. So, hemophilia B is a rare genetic bleeding disorder. (optum.com)
Kennedy's disease is caused by a genetic mutation of the androgen receptor gene on the X chromosome. (vic.gov.au)
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)
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)
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)
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 invention addresses a major shortcoming of most gene therapies, which is the ability to regulate gene expression levels in diseases like spinal muscular atrophy (SMA). (scienceboard.net)
Spinal muscular atrophies usually result from autosomal recessive mutations that affect the survival motor neuron 1 ( SMN1 ) gene on the long arm of chromosome 5, most often causing a homozygous deletion of exon 7. (msdmanuals.com)

Spinraza, a medicine for spinal muscular atrophy (SMA), was once priced at a whopping 700,000 yuan. (news.cn)
The Cambridge pharmaceutical company said Thursday that revenue from Spinraza, which treats spinal muscular atrophy (SMA), totaled $543 million in the fourth quarter. (wbur.org)

The treatment of patients with spinal muscular atrophy (SMA) is symptomatic and requires a multidisciplinary neurological, orthopaedic, respiratory, gastrointestinal, educational, psychological and social approach. (has-sante.fr)
Biologic drugs have increasingly delivered treatments for cancer and rare diseases and continue to prove effective in other wide-ranging areas, from neurological and metabolic disorders to respiratory and cardiovascular diseases. (genengnews.com)
SMARD stands for spinal muscular atrophy with respiratory distress. (patientworthy.com)
They have faced years of inconclusive tests before they were finally told their son has a very rare form of spinal muscular atrophy - which causes muscle weakness and respiratory failure. (shropshirestar.com)
spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. (bvsalud.org)

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)

Before its genetics was understood, its varying manifestations were thought to be different diseases - Werdnig-Hoffmann disease when young children were affected and Kugelberg-Welander disease for late-onset cases. (wikipedia.org)
The eponymous term Kugelberg-Welander disease named after Erik Klas Hendrik Kugelberg (1913-1983) and Lisa Welander (1909-2001), who first documented the late-onset form and distinguished it from muscular dystrophy. (wikipedia.org)
Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. (medscape.com)
Type III (SMA3) or Kugelberg-Welander disease causes symptoms after the age of 18 months, and these patients acquire autonomous ambulation. (dovepress.com)
Spinal muscular atrophy type 3 (juvenile form, or Wohlfart-Kugelberg-Welander disease) usually manifests between age 15 months and 19 years. (msdmanuals.com)

Spinal muscular atrophy was then classified into 3-5 clinical types based either on the age of symptom onset or on the maximum motor function achieved. (wikipedia.org)
The eponymous label Werdnig-Hoffmann disease (sometimes misspelled with a single n) refers to the earliest clinical descriptions of childhood SMA by Johann Hoffmann and Guido Werdnig. (wikipedia.org)
In this exclusive interview with Rare Disease Report , Kenneth Fischbeck, MD, of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland, talks about the many exciting preclinical and clinical studies that are underway to develop a treatment for patients with spinal muscular atrophy. (globalgenes.org)
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)
13 products resulting from Genethon's research are in clinical trials for eye, liver, blood, immune system and muscle diseases. (businesswire.com)
The country's national drug regulator has pledged to greenlight rare disease medicines -- with urgent clinical needs -- available in the overseas market but have not yet been marketed in China within 70 days. (news.cn)
Among the 81 overseas drugs with urgent clinical needs listed by NMPA, more than half are for rare diseases, and 26 of them have already been approved for use, said Chen Shifei, deputy head of NMPA. (news.cn)
Speaking at the conference, Zhang Shuyang, president of Peking Union Medical Hospital, said China's clinical research on rare diseases has been updated into a collaborative innovation system, achieving multiple breakthroughs in genetic mechanism, diagnostic markers, clinical typing and pathogenesis. (news.cn)
Helen Devine - Targeting Bile Acid Receptors in Motor Neuron Disease: Pre-clinical Modelling to Assess the Potential of Repurposing FXR and TGR5 Receptor Agonists as Therapeutic Agents in MND. (ncl.ac.uk)
In many cases, the challenges begin with what parents in the rare disease community term a "diagnostic odyssey," to pin down the exact genetic cause and find a clinical team with expertise in, or even knowledge of, the condition. (jax.org)
In clinical trials, about 90 percent of patients who got the one-time therapy no longer needed transfusions to treat their disease. (bostonglobe.com)
Companies, regardless of size, face an additional concern when working with small numbers of patients in a clinical study, which typically involves finding treatments for rare diseases. (fortherecordmag.com)
Clinical phenotypes are grouped into five forms depending on the severity of the disease and the age of onset. (dovepress.com)
This has allowed me to really expand on my clinical practice when it comes to putting into place what I've known for patients and what I understand about the disease, and I'll apply that knowledge into now developing and being part of a program that allows for therapies to come forward for clinical and treatment care. (reachmd.com)
While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations. (nih.gov)
Although Novartis has since abandoned development of LMI070 in favor of newer therapeutics for the treatment of SMA, clinical trial data from the SMA study indicated that the drug also decreased expression of huntingtin protein, an important therapeutic target for Huntington's disease. (scienceboard.net)
Novartis began clinical trials for LMI070 in the treatment of Huntington's disease this year. (scienceboard.net)
The authors found the most important attribute to be the predictive value of a genotype for the development of clinical disease, i.e., disease penetrance. (cdc.gov)
Tests for conditions where a positive result was associated with only a 10% chance of developing clinical disease were found to be distressing to parents whereas there was a positive preference for tests with 75% or 90% predictive value of disease. (cdc.gov)
MARKET OUTLOOK Research on the human microbiome is beginning to mature, with microbiome-based therapies reaching the clinical trial phase of development for many disease areas. (clarivate.com)
Body girth fied by disease severity and the age at on set of measurements are frequently used in clinical prac- symptoms, namely type I for the most severe cases tice17,18 due to their practical character and low price. (bvsalud.org)
Clinical MRSA infections of humans associated with horse contact, however, are rare and, to our knowledge, only 2 reports have been published. (cdc.gov)
Clinical features of PPS include fatigue, joint and muscle pain, new muscular weakness and bulbar symptoms. (bvsalud.org)
The patient should be observed closely for signs that the dose may need to be altered, such as changes in clinical status resulting from disease remissions or exacerbations. (who.int)

Kennedy's disease is also known as X-linked spinal bulbar muscular atrophy (SBMA). (vic.gov.au)

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)
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. (wikipedia.org)
In 1990, it was realised that these separate diseases formed a spectrum of the same disorder. (wikipedia.org)
Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). (howstuffworks.com)
Fahr's Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) and associated cell loss in certain areas of the brain (e.g., basal ganglia). (howstuffworks.com)
Additional approvals were given to assist patients with erythropoietic protoporphyria, neuromyelitis optica spectrum disorder, systemic sclerosis-associated interstitial lung disease, and Duchenne muscular dystrophy. (ajmc.com)
People with PKU, a rare genetic disorder, are fighting for access to medication. (thejournal.ie)
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)
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)
Spinal muscular atrophy (SMA) is a rare, genetic disorder that impacts the muscles, making them progressively weaker over time. (patientworthy.com)
SMA is a rare neuromuscular disorder. (scienceboard.net)
That editorial referred to the 2010 RTI pilot study, noting "This method also has been applied to voluntary newborn screening for rare disorders lacking effective treatments to elicit parental valuations on the relative importance of disorder prevalence, test sensitivity, developmental disability, physical disability, and life expectancy. (cdc.gov)
In the first instance, this defining feature of the neous disorder for which the aetiology, in the majority disease has been shown at post-mortem, as well as of cases, is unknown [1]. (lu.se)
Rare congenital X-linked disorder of lipid metabolism. (bvsalud.org)

Drs. Julie Parsons and Vanessa Battista discuss the recognition and initial management of spinal muscular atrophy (SMA) at the time of diagnosis. (practicingclinicians.com)
China is also striving to improve the diagnosis and treatment of rare diseases. (news.cn)
Safe, effective, quality-assured and affordable vaccines, medicines, medical devices, in vitro diagnostics and assistive products are necessary for the prevention, diagnosis and treatment of cancer and other noncommunicable diseases such as diabetes, and rare and orphan diseases, as well as the monitoring, rehabilitation and palliative care of individuals with these conditions. (who.int)
Any parent with a sick child faces obstacles, but these compound exponentially when the diagnosis is for a rare genetic disease. (jax.org)
For some, the day we learned of our rare disease diagnosis is a happy day. (rarediseaseday.org)
Each patient's journey with the disease is unique, and based on a number of characteristics including age of diagnosis and disease type, healthcare providers should consider the need to diagnose and treat SMA as urgent. (reachmd.com)

Drugs in development or marketed with the support of AFM-Telethon concern neurological and neuromuscular diseases, diseases of the liver, vision, skin and immune system. (afm-telethon.fr)
Almost half of them concern neuromuscular diseases, the other concern rare diseases. (afm-telethon.fr)
These include Hunter syndrome and other lysosomal storage disorders, complement-mediated disorders, hemophilia A, metabolic disorders, rare cholestatic liver diseases and neuromuscular diseases, as well as glioblastoma multiforme. (biospace.com)
In addition, the instruments available for assessing motor function have limitations when applied to infants with neuromuscular diseases and significant muscle weakness. (bvsalud.org)

Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (medlineplus.gov)
Decreased synaptic vesicle transport in motor neurons, leading to impaired growth of neurons, is thought to contribute to the muscle weakness and atrophy experienced by people with SMA-LED. (medlineplus.gov)
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)
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)
Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
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)
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)
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle weakness due to the loss of anterior horn motor neurons. (clarivate.com)
BACKGROUND: Spinal muscular atrophy (SMA) is a rare genetic disease that causes progressive muscle weakness and impacts motor function. (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)
The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. (bvsalud.org)

SMA, in full Spinal muscular atrophy type 1, which is the more severe type of the disease. (rarediseaseday.org)
With Decrum's disease, growth on or below skin can irritate nerves and cause severe pain. (howstuffworks.com)
Pain associated with Dercum's disease can often be severe. (howstuffworks.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)
Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. (pharmiweb.com)
Rather than a rapidly lethal disease, SMA type 1, the most severe form with the earliest onset of SMA, has become a disease in which long-term event-free survival with the acquisition of important motor milestones is likely. (dovepress.com)
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 loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. (medlineplus.gov)
Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)
There is no cure for Kennedy's disease, because medical science doesn't know how to regenerate muscle neurones. (vic.gov.au)
Ben is fighting a muscle-wasting disease. (shropshirestar.com)

At a two-day conference on rare diseases that concluded on Dec. 19, Li Tao, deputy head of the National Healthcare Security Administration, said that seven rare-disease medicines were included in the country's medicare reimbursement list in 2021, with an average price reduction of 65 percent. (news.cn)
EMAILWIRE.COM , October 20, 2022 ) According to Precision Business Insights (PBI) latest report, the global spinal muscular atrophy treatment market is estimated to be valued at USD 2.22 billion in 2021, growing at a CAGR of 28.9% during the forecast period 2022-28. (emailwire.com)

Spinal muscular atrophy type 1 (infantile spinal muscular atrophy, or Werdnig-Hoffmann disease) is also present in utero and becomes symptomatic by about age 6 months. (msdmanuals.com)

In 2023, AFM-Telethon is supporting 39 trials underway or in preparation in 30 rare diseases . (afm-telethon.fr)
A number of national and regional funding organisations will participate in the EJP RD Joint Transnational Call (JTC) 2023 and will fund multilateral research projects on rare diseases. (anr.fr)

One such approved drug, Egaten (triclabendazole), treats fascioliasis, a tropical disease more commonly known as liver fluke infestation. (ajmc.com)

Thank you for making Rare Disease Day 2020 a success! (rarediseaseday.org)
New Rare Disease Day Poster 2020 out now! (rarediseaseday.org)

SMA type I (SMA1), also known as Werdnig-Hoffman disease, occurs during the first 6 months of life and is associated with death before 2 years of age in most of the cases in absence of supportive care. (dovepress.com)
7 SMA2 and SMA3 progress more slowly than SMA1 but are clearly progressive diseases, even in adulthood. (dovepress.com)

Included in the report were numerous approvals for treatments targeted at combatting rare diseases like cystic fibrosis, tenosynovial giant cell tumor, and sickle cell disease. (ajmc.com)
Consequently, there have been breakthroughs in several diseases, including cystic fibrosis and spinal muscular atrophy. (fortherecordmag.com)

The term 'leukoencephalopathy' means that the disease affects mainly the white matter of the brain or myelin, although there are some rare cases in which the gray matter neurons is also involved. (howstuffworks.com)
Niamh n Ruarí was diagnosed with a disease that affects one in every 200,000 people, but is determined to re-educate society on the perceptions they have of those who are physically less fortunate. (thejournal.ie)
This condition affects fewer than 1 in 150,000 males and is very rare in females. (medlineplus.gov)
By definition, a rare disease affects fewer than 200,000 people, but many represent just hundreds or even dozens of patients. (jax.org)
Duchenne muscular dystrophy (or DMD) is the most common muscular dystrophy in children, and it mostly affects boys in early childhood. (medlineplus.gov)
Lubin, aged 12, is from Juvisy, France and is living with spinal muscular atrophy (SMA) which affects 1-9 in 100,000 people. (rarediseaseday.org)

A hereditary condition known as spinal muscular atrophy causes the muscles used for movement to become weaker. (emailwire.com)

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)

This drug, used in oncology for almost 40 years, is assessed in Duchenne muscular dystrophy, following preclinical studies supported by the AFM-Telethon. (afm-telethon.fr)

Disease descriptions courtesy of the National Organization for Rare Disorders (NORD). (howstuffworks.com)
In addition to approvals for rare diseases, CDER announced in its report the approval of treatments for certain cancers, blood disorders, autoimmune conditions, and heart, lung, circulatory, and endocrine diseases. (ajmc.com)
New five-year NIH grant totaling $10.6M funds JAX center to fast-track treatment-focused research for rare genetic disorders. (jax.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)
It concluded more broadly, "Research is needed on the perceived value to stakeholders, including the public, of carrier screening for SMA in particular and for rare disorders in general. (cdc.gov)
Spinal muscular atrophies may involve the central nervous system and thus are not purely peripheral nervous system disorders. (msdmanuals.com)

SMA is a progressive neuromuscular disease. (katc.com)

5q SMA is a single disease that manifests over a wide range of severity, affecting infants through adults. (wikipedia.org)

Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement. (wales.nhs.uk)
Kennedy's disease causes the loss of motor neurone cells, including those in the brain stem that supply the bulbar muscles. (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)
But Ben is one of only eight children in the world to have a rare disease which is causing his muscles to waste away. (shropshirestar.com)

One of the simplest ways to detect the disease is via a routine newborn screening exam. (reachmd.com)
During the drive, they tried to process the news: their seemingly perfect baby boy had abnormal results on his newborn screening for spinal muscular atrophy (SMA). (uky.edu)

NPs and PAs who care for patients with spinal muscular atrophy (SMA). (practicingclinicians.com)
Because so few patients suffer from these diseases, there are often scarce or no drugs available to treat the conditions. (ajmc.com)
With 200+ scientists and professionals, Genethon is pursuing its mission to bring life-changing therapies to patients suffering from rare genetic diseases. (businesswire.com)
This is part of China's intensified efforts to rescue about 20 million patients with rare diseases in the country. (news.cn)
Currently, more than 40 rare disease medicines are eligible for reimbursement, remarkably reducing the medical expenses for patients. (news.cn)
A total of 600,000 rare disease patients have been registered in two national databases, providing researchers and clinicians with urgently needed epidemiological data, Zhang noted. (news.cn)
For example, only 1 in 10 people who need assistive products has access to 1 Diseases affecting small numbers of patients, including diseases of genetic origin, infrequent forms of cancer, autoimmune diseases, toxic and/or infectious diseases, and congenital deformities. (who.int)
Rare and orphan diseases affect a small number of patients and their management presents specific challenges, including the need for complex and specialized care. (who.int)
Few research programs specializing in the disease, and little incentive for pharmaceutical companies to develop drugs for such a small pool of patients, mean that there may be few or no treatment options available. (jax.org)
When there are limited options available for treating a rare disease, new therapies can transform care for patients with the condition. (england.nhs.uk)
Access to treatment is an issue for patients across the world, especially for those with rare diseases. (patientworthy.com)
Spinal muscular atrophy (SMA) patients aged two months and older will now have an at-home treatment option in Europe. (patientworthy.com)
to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
patients with spinal muscular atrophy presented higher adiposity and lower chest expansion. (bvsalud.org)
Patients with type III get to three point of SMA children suffer from stunted develop- walking, wether or not they maintain this ability ment due to nutritional, muscular, postural and res- throughout adulthood1-3,6,7. (bvsalud.org)
Patients with polio may experience progression with new symptoms decades after the acute disease. (bvsalud.org)
CV004 trade name] may also be used in the treatment of coronavirus disease 2019 (COVID-19) in adult and adolescent patients (aged 12 years and older with body weight of at least 40 kg) who require supplemental oxygen therapy. (who.int)

The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. (wikipedia.org)
Werdnig-Hoffmann disease should not be confused with Hoffmann syndrome, which is a type of adult-onset hypothyroid myopathy. (wikipedia.org)
The study findings have implications for genomic testing or screening for highly penetrant childhood-onset rare diseases that cause serious physical and mental problems or early death, e.g., spinal muscular atrophy (SMA). (cdc.gov)

Rare Disease Report: Will a Treatment for Spinal Muscular Atrophy be Available Soon? (globalgenes.org)
This treatment "helps prevent the most common complication" of the disease called vasoocclusive crisis, a condition that occurs when body tissues don't receive enough oxygen. (ajmc.com)
More than 200,000 people in China are diagnosed with such diseases every year, often struggling due to limited treatment methods and sky-high medical expenses. (news.cn)
Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically altered prognosis. (dovepress.com)
The only factor identified that is predictive of treatment success is the age of the patient at the initiation of treatment, which is closely related to disease duration. (dovepress.com)
One of the main reasons boosting market expansion is rising awareness of Spinal Muscular Atrophy (SMA) and the rising number of attempts to expand treatment choices for uncommon diseases. (emailwire.com)
Maisie Green Maisie Green is a 20-month-old little girl whose insurance has finally approved coverage for a life-altering spinal muscular atrophy treatment. (patientworthy.com)
A Colorado mom is on a mission to raise money for her daughter's type 1 spinal muscular atrophy (SMA) treatment -- that would save her child's life. (patientworthy.com)
There's positive news for Evrysdi, a treatment for spinal muscular atrophy (SMA). (patientworthy.com)
However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn't exist. (cdc.gov)
SMA is a progressive disease, and unfortunately there are not many treatment options. (uky.edu)
It is an outstanding experience for us as providers to be able to see, given what this disease used to be like before the treatment. (uky.edu)
In the Netherlands, a 16-year-old girl with spinal muscular atrophy type II (wheelchair-bound and needing artificial ventilation) sought treatment at a hospital for an infected wound on her right foot thought to be caused by an insect bite ( Figure A1 ). (cdc.gov)

citation needed] The symptoms vary depending on the SMA type, the stage of the disease as well as individual factors. (wikipedia.org)
Nellie and Lara are the only two children in Ireland with Spinal Muscular Atrophy Type 1 - an extremely rare genetic condition. (thejournal.ie)
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)
Spinal muscular atrophy type II (SMA2), also called "intermediate" SMA, occurs slightly later than type I, between the ages of 6 and 18 months, and is characterized by the absence of acquisition of autonomous ambulation. (dovepress.com)
On the basis of Disease Type, the market is categorized into Type 1, Type 2, Type 3, and Type 4. (emailwire.com)
Infected wound, initially thought to be caused by an insect bite, on the right foot of a 16-year-old girl who was wheelchair-bound because of spinal muscular atrophy type II, the Netherlands. (cdc.gov)

This is an outstanding opportunity to expand the scope and scale of our work with our human genetics colleagues," says Murray, "to support their efforts to discover new variants associated with rare disease, and also to help them build a bridge towards translational models for future therapeutic development. (jax.org)

Serum creatine kinase levels may be elevated but usually not to the extent that they are elevated in persons with muscular dystrophy. (medscape.com)

Neurodegeneration and neurodegenerative diseases (including the shared mechanisms of nerve cell death that contribute to many diseases), Vascular Cognitive Impairment and Dementia (VCID), NINDS tissue/cell resources, basic invertebrate neuromuscular junction (NMJ). (nih.gov)
Huntington's disease (HD) is an autosomal dominant, neurodegenerative disease characterized by progressive chorea, dystonia, and cognitive decline. (clarivate.com)

Amyotrophic Lateral Sclerosis (ALS) and Other Motor Neuron Diseases (MNDs) Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei. (msdmanuals.com)
Spinal muscular atrophy (SMA) is caused by successive motor unit degeneration. (medscape.com)

The incidence of spinal muscular atrophy worldwide varies from about 1 in 4,000 births to around 1 in 16,000 births, with 1 in 7,000 and 1 in 10,000 commonly quoted for Europe and the US respectively. (wikipedia.org)
Spinal muscular atrophy has an estimated incidence of 1 case per 15,000 live births. (medscape.com)
Spinal muscular atrophy has an estimated incidence of 1 case per 15,000-20,000 live births worldwide. (medscape.com)

At Biogen, we discover, develop, produce and distribute innovative medicines for people with serious neurological, autoimmune and rare diseases. (bayern-international.de)

This occurred because treatments are being developed that are changing the course of the disease. (rarediseases.org)
That community - which includes academic researchers, disease-based organizations and pharmaceutical and biotech companies - is involved with every aspect of the center's work, from proposing which diseases to focus on to developing new treatments. (jax.org)
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)
There is also rising demand for novel treatments for prevalent chronic diseases like diabetes and obesity, and biologics are poised to deliver. (genengnews.com)
At the heart of rare disease treatments is research. (patientworthy.com)

Also, there are rare forms of SMA that are not due to 5q mutations. (msdmanuals.com)

Very rarely used Dubowitz disease (not to be confused with Dubowitz syndrome) is named after Victor Dubowitz, an English neurologist who authored several studies on the intermediate SMA phenotype. (wikipedia.org)
Hoffmann called the syndrome spinale muskelatrophie (spinal muscular atrophy). (medscape.com)
The baby was diagnosed with Denys-drash syndrome, a fatal disease with fewer than 500 cases reported worldwide. (news.cn)

Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (medlineplus.gov)
Finsterer J. Perspectives of Kennedy's disease. (medlineplus.gov)
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)

Anatomy12

Organisms1

Diseases26

Chemicals and Drugs12

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes12

Disciplines and Occupations2

Technology, Industry, Agriculture1

Health Care1

Nusinersen5

Zolgensma6

Proximal1

Cord18

Gene41

Spinraza2

Respiratory5

SMAs1

Kugelberg-Welander5

Clinical24

SBMA1

Disorder15

Diagnosis6

Neuromuscular diseases4

Weakness13

Severe7

Muscle4

20212

Infantile1

20232

Treats1

20202

SMA12

Cystic fibrosis2

Affects6

Known as spinal1

Symptoms of spinal1

Duchenne Muscular1

Disorders6

Progressive neuromuscular disease1

Affecting infants1

Muscles4

Newborn2

Patients17

Onset3

Treatment13

Type6

Genetics1

Dystrophy1

Neurodegenerative2

Degeneration2

Incidence3

Neurological1

Treatments6

Mutations1

Syndrome3

Kennedy's4