Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.Movement: The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.Posture: The position or attitude of the body.Human Body: The human being as a non-anatomical and non-zoological entity. The emphasis is on the philosophical or artistic treatment of the human being, and includes lay and social attitudes toward the body in history. (From J. Cassedy, NLM History of Medicine Division)Muscles: Contractile tissue that produces movement in animals.Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of PAIN, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Muscle Proteins: The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Muscular Dystrophy, Duchenne: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)Hospitals, Voluntary: Private, not-for-profit hospitals that are autonomous, self-established, and self-supported.Muscular Dystrophy, AnimalHospitals, Proprietary: Hospitals owned and operated by a corporation or an individual that operate on a for-profit basis, also referred to as investor-owned hospitals.Myotonic Dystrophy: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.Muscular Dystrophy, Facioscapulohumeral: An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Dystrophin: A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.Muscular Atrophy, Spinal: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)Spinal Muscular Atrophies of Childhood: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)Survival of Motor Neuron 1 Protein: A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.SMN Complex Proteins: A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.Survival of Motor Neuron 2 Protein: A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.Huntington Disease: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.Los AngelesAmerican Heart Association: A voluntary organization concerned with the prevention and treatment of heart and vascular diseases.Cardiology: The study of the heart, its physiology, and its functions.Congresses as Topic: Conferences, conventions or formal meetings usually attended by delegates representing a special field of interest.Heart: The hollow, muscular organ that maintains the circulation of the blood.Motor Neurons: Neurons which activate MUSCLE CELLS.Motor Neuron Disease: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)Sarcoglycans: A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.Muscular Dystrophies, Limb-Girdle: A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).Calpain: Cysteine proteinase found in many tissues. Hydrolyzes a variety of endogenous proteins including NEUROPEPTIDES; CYTOSKELETAL PROTEINS; proteins from SMOOTH MUSCLE; CARDIAC MUSCLE; liver; platelets; and erythrocytes. Two subclasses having high and low calcium sensitivity are known. Removes Z-discs and M-lines from myofibrils. Activates phosphorylase kinase and cyclic nucleotide-independent protein kinase. This enzyme was formerly listed as EC 3.4.22.4.Dystroglycans: Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.Biological Ontologies: Structured vocabularies describing concepts from the fields of biology and relationships between concepts.

Toxic oil syndrome mortality: the first 13 years. (1/1572)

BACKGROUND: The toxic oil syndrome (TOS) epidemic that occurred in Spain in the spring of 1981 caused approximately 20000 cases of a new illness. Overall mortality and mortality by cause in this cohort through 1994 are described for the first time in this report. METHODS: We contacted, via mail or telephone, almost every living member of the cohort and family members of those who were known to have died in order to identify all deaths from 1 May 1981 through 31 December 1994. Cause of death data were collected from death certificates and underlying causes of death were coded using the International Classification of Diseases, 9th Revision. RESULTS: We identified 1663 deaths between 1 May 1981 and 31 December 1994 among 19 754 TOS cohort members, for a crude mortality rate of 8.4%. Mortality was highest during 1981, with a standardized mortality ratio (SMR) of 4.92 (95% confidence interval [CI]: 4.39-5.50) compared with the Spanish population as a whole. The highest SMR, (20.41, 95% CI: 15.97-25.71) was seen among women aged 20-39 years during the period from 1 May 1981 through 31 December 1982. Women <40 years old, who were affected by TOS , were at greater risk for death in most time periods than their unaffected peers, while older women and men were not. Over the follow-up period, mortality of the cohort was less than expected when compared with mortality of the general Spanish population, or with mortality of the population of the 14 provinces where the epidemic occurred. We also found that, except for deaths attributed to external causes including TOS and deaths due to pulmonary hypertension, all causes of death were decreased in TOS patients compared to the Spanish population. The most frequent underlying causes of death were TOS, 350 (21.1%); circulatory disorders, 536 (32.3%); and malignancies, 310 (18.7%). CONCLUSIONS: We conclude that while on average people affected by toxic oil syndrome are not at greater risk for death over the 13-year study period than any of the comparison groups, women <40 years old were at greater risk of death.  (+info)

Wasting of the small hand muscles in upper and mid-cervical cord lesions. (2/1572)

Four patients are described with destructive rheumatoid arthritis of the cervical spine and neurogenic wasting of forearm and hand muscles. The pathological connection is not immediately obvious, but a relationship between these two observations is described here with clinical, radiological, electrophysiological and necropsy findings. Compression of the anterior spinal artery at upper and mid-cervical levels is demonstrated to be the likely cause of changes lower in the spinal cord. These are shown to be due to the resulting ischaemia of the anterior part of the lower cervical spinal cord, with degeneration of the neurones innervating the forearm and hand muscles. These findings favour external compression of the anterior spinal artery leading to ischaemia in a watershed area as the likeliest explanation for this otherwise inappropriate and bizarre phenomenon.  (+info)

Obturator internus muscle abscess in children: report of seven cases and review. (3/1572)

Obturator internus muscle (OIM) abscess is an uncommon entity often mistaken for septic arthritis of the hip. We describe seven children with OIM abscess and review seven previously reported cases. The most common presenting symptoms were hip or thigh pain (14 patients), fever (13), and limp (13). The hip was flexed, abducted, and externally rotated in 11 patients. Magnetic resonance imaging and computed tomography (CT) were diagnostic for OIM abscess in the 14 patients. Associated abscesses were located in the obturator externus muscle (5 patients), psoas muscle (2), and iliac muscle (1). The etiologic agents were Staphylococcus aureus (8 patients), Streptococcus pyogenes (2), Neisseria gonorrhoeae (2), and Enterococcus faecalis (1). Three patients underwent CT-guided percutaneous drainage, and three had surgical drainage. Three patients had ischial osteomyelitis in addition to OIM abscess. The 11 children with uncomplicated OIM abscess were treated for a median of 28 days. All patients had an uneventful recovery.  (+info)

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (4/1572)

Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.  (+info)

Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey. (5/1572)

A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2+ is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy.  (+info)

Measurements of muscle strength and performance in children with normal and diseased muscle. (6/1572)

A study has been made of two simple means of measuring muscle power in children with normal and diseased muscle. In one the length of time that the leg and the head could be held at 45 degrees above the horizontal was measured with the child supine. In the second, measurements were made of the isometric strength of six muscle groups with the newly developed Hammersmith Myometer. In the timed performance tests only 5 (8%) of a group of 61 children known to have muscle disease achieved the minimum expected values for their ages. Myometer readings of the isometric power of the children with muscle disease also have values which were below those of a comparable group of normal children. The reproducibility of muscle strength measurements in young children has been shown to be good, whereas the timed performance tests, though able to differentiate normal children from children with muscle disease, did not show sufficient reporducibility for this test to be recommended for sequential measurements.  (+info)

Calcific myonecrosis. (7/1572)

Calcific myonecrosis is a rare and late sequela of compartment syndrome, which becomes symptomatic years after the initial trauma. We diagnosed this condition in a 64-year old man, 42 years after he sustained a shot-gun wound to the right lower leg. Total excision of a peripherally calcified, cystic mass, continuous with the anterior tibial muscle belly resulted in complete resolution of symptoms. Consideration of the diagnosis is warranted in patients with a history of major injury who develop a soft tissue mass in the traumatized compartment. The treatment of choice is marginal excision.  (+info)

The prevalence and CT appearance of the levator claviculae muscle: a normal variant not to be mistaken for an abnormality. (8/1572)

BACKGROUND AND PURPOSE: The levator claviculae muscle is an infrequently recognized variant in humans, occurring in 2% to 3% of the population, and has rarely been reported in the radiologic or anatomic literature. The importance of this muscle to radiologists is in distinguishing it from an abnormality; most commonly, cervical adenopathy. After discovering this muscle on the CT scans of two patients during routine clinical examinations, we conducted a study to determine the prevalence and appearance of the muscle on CT studies. METHODS: We evaluated 300 CT scans that adequately depicted the expected location of the muscle. The most superior level in which the muscle could be identified and the apparent location of insertion on the clavicle were recorded for all subjects in whom the muscle was detected. RESULTS: Seven levator claviculae muscles were identified in six subjects (2%). It was bilateral in one, on the left in four, and on the right in one. It was identified up to the level of the transverse process of C3 in all cases. The insertion was the middle third of the clavicle for two muscles and the lateral third of the clavicle for the remaining five muscles. CONCLUSION: Because the levator claviculae muscle will most likely be encountered during a radiologist's career, it is important to recognize this muscle as a variant and not as an abnormality.  (+info)

  • At the American Society of Human Genetics conference, I will be presenting our work on a mutation-independent strategy to upregulate expression of a compensatory disease-modifying gene in Congenital Muscular Dystrophy type 1A (MDC1A) using a CRISPR/dCas9-based transcriptional activation system. (mousephenotype.org)
  • Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. (hekimce.com)
  • There have been small studies that show that in different cases, nonstrenuous exercise may improve things like quality of life, but there's never been anything to show that it slows disease progression," says Elman. (everydayhealth.com)
  • In this work, we also demonstrate that dystrophic features and disease progression were significantly improved and partially reversed when the treatment was initiated in symptomatic 3-week old dy2j/dy2j mice with already-apparent hind limb paralysis and significant muscle fibrosis. (mousephenotype.org)
  • Findings from this study suggest that the [11C]PBR38 ligand, in particular, may be useful in detecting progression from mild cognitive impairment or treatment response in Alzheimer's Disease. (fnih.org)
  • treatment targets your child's specific symptoms to slow disease progression and improve quality of life. (dukehealth.org)
  • Diagnosed with Huntington's chorea more than six years ago, Althea has the desire and drive to work with Interim HealthCare's physical therapist and aides to help maintain her motor skills and slowing the progression of her disease. (interimhealthcare.com)
  • Non-Hodgkin's lymphoma, Hodgkins disease, Lyme disease, and muscular dystrophy warriors, survivors, patients, caregivers, and supporters, stand strong in the fight for a cure with our Fight Like a Girl Signature t-shirt in lime green with lime green awareness ribbon and boxing glove. (morgellonssurvey.org)
  • The company sought approval for deflazacort as an "orphan drug," a special approval pathway intended to encourage the development of drugs for very rare diseases. (washingtonpost.com)
  • This also seems to be another example of gaming the Orphan Drug Act, which was intended to try and encourage research into new therapeutic entities for people who have rare diseases - and it doesn't seem like this is that. (washingtonpost.com)
  • For example, tetrabenazine, a drug that was available from abroad and used for years to treat the uncontrollable tremors of Huntington's disease, was approved as an orphan drug in 2008. (washingtonpost.com)
  • Over the past decade, the role of TDP-43 dysregulation and aggregation in nerve cells in neurodegenerative diseases such as ALS has become increasingly clear. (mda.org)
  • Motor neurone disease shares multiple commonalities with other neurodegenerative diseases and is an excellent model for evaluating all forms of neuroprotective treatment. (sheffield.ac.uk)
  • The Sheffield Institute for Translational Neuroscience (SITraN) was awarded the Queen's Anniversary Prize 2019 for delivering real benefits in improving patient outcomes for people living with some of the most devastating neurodegenerative diseases. (sheffield.ac.uk)
  • In April 2015, in preparation for the FDA's Gastrointestinal Disorders Patient-Focused Drug Development Workshop , the second-ever FDA meeting addressing celiac disease, CDF surveyed our community . (celiac.org)
  • The Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium's Plasma Abeta project will evaluate next generation plasma Aβ assays to determine whether plasma Aβ peptide ratios increase the probability of identifying patients with amyloid positivity to improve clinical trial screening efficiency and reduce clinical trial costs for early stages of Alzheimer's Disease. (fnih.org)
  • The National Institutes of Health (NIH) convened the 3rd Alzheimer's Disease-Related Dementia Summit, that was held on March 14-15, 2019 in Bethesda, Maryland. (fnih.org)
  • This complements current efforts in the areas of Alzheimer's disease, type 2 diabetes and the autoimmune disorders of rheumatoid arthritis and systemic lupus erythematosus (lupus) . (fnih.org)
  • The Accelerating Medicines Partnership Alzheimer's Disease Project (AMP-AD) is a precompetitive partnership among government, industry, and nonprofit organizations that focuses on discovering novel, clinically relevant therapeutic targets and on developing biomarkers to help validate existing therapeutic targets. (fnih.org)
  • This project will aim to standardize and validate measurement methods for inflammatory markers associated with Alzheimer's Disease and/or Major Depressive Disorder to ultimately identify a unique biosignature of disease. (fnih.org)
  • The Biomarkers Consortium's Longitudinal CSF Proteomics Project, completed in Q4Y20, was the third stage of a multi-phased effort utilizing samples from the Alzheimer's Disease Neuroimaging Initiative (ADNI) expanding on the identification of promising proteins in a previous Biomarkers Consortium project to provide early validation for candidate AD biomarkers. (fnih.org)
  • Specifically, a married 30-year-old geneticist who will almost certainly lose her mind to early-onset Alzheimer's disease by age 40 chose to have her embryos tested in vitro for the disease gene. (readthehook.com)
  • This round of grant funding reinforces MDA's unwavering commitment to the progress of neuromuscular disease research and builds on the more than $1 billion MDA has already invested in research to uncover new treatments and cures for NMDs since its inception. (mda.org)
  • Modified messenger RNA (mRNA) for expressing clinically beneficial proteins is an emerging new therapeutic approach that enables the body to produce therapeutic protein, opening up new treatment options for a wide range of diseases. (artbioscience.com)
  • Collectively, our data demonstrate the feasibility and therapeutic benefit of CRISPR/dCas9-mediated modulation of a disease modifier gene, which opens up an entirely new and mutation-independent treatment approach for all MDC1A patients. (mousephenotype.org)
  • An old steroid treatment, long available outside the United States, received approval this week for a rare disease that afflicts about 15,000 Americans. (washingtonpost.com)
  • It's the first time the procedure was successful with an animal as large as a dog - an important step towards possible use on humans affected by the disease. (cbc.ca)
  • Our teams have key skills in cellular and molecular biology, in vitro and in vivo disease modelling, human neuropathology, viral vector technology, genetics, pharmacology, gene therapy, RNA processing, electrophysiology, together with experience in clinical research and conducting clinical trials. (sheffield.ac.uk)
  • Huntington's disease is caused by carrying a faulty version of the gene for the Huntingtin protein, but the messenger. (thenakedscientists.com)
  • The idea behind this work is to identify the key molecular switches that can cause a gene to produce, or not produce, a protein-and, ideally, use that knowledge to treat a disease. (xconomy.com)
  • The Bespoke Gene Therapy Consortium (BGTC) is a developing public-private partnership dedicated to making gene therapy a reality for people with rare genetic diseases affecting populations too small to be viable from the current commercial perspective. (fnih.org)
  • The mother in this case certainly knows what would face any child of hers born with the disease gene. (readthehook.com)
  • Can the fledgling company surpass previous efforts and develop epigenetic drugs for a slew of different diseases? (xconomy.com)
  • This is an emerging field that's just starting to realize its full potential of treating human disease," Fulcrum's CEO Robert Gould, who once ran Epizyme, told Xconomy in 2016 . (xconomy.com)
  • The biotech sector is projected to surge beyond $775 billion by 2024 as scientists develop treatments for thousands of diseases. (yahoo.com)
  • The FDA Gastroenterology Regulatory Endpoints and Advancement of Therapeutics (GREAT3) Workshop served to formalize the discussion of therapeutic treatments for celiac disease. (celiac.org)
  • The Neuroscience Institute gives us a new opportunity to build on the existing expertise and advances within SITraN and apply them to a wider community of academic excellence tackling a broader range of diseases. (sheffield.ac.uk)
  • Mostly, Dr. Smith says, that's because Duchenne is a rare disease, and there isn't anything that can be done about a girl or woman's status as a carrier even if it's discovered. (everydayhealth.com)
  • In theory, these vouchers exist for a good reason: Regulators want to encourage companies to invest in developing drugs for rare diseases that afflict children. (washingtonpost.com)
  • In recent years, companies that have gotten old or existing drugs approved to treat rare diseases have reaped big financial rewards. (washingtonpost.com)
  • Ghias said that the company carefully thought about pricing and came up with a price far lower than other rare disease drugs - in the bottom 10th percentile of rare disease drug prices. (washingtonpost.com)