157 relations: Aclarubicin, Agence France-Presse, Alternative splicing, American Congress of Obstetricians and Gynecologists, Aminoglycoside, Amyotrophic lateral sclerosis, Anatomical terms of location, Annals of Neurology, Anterior grey column, Assistive technology, Astellas Pharma, Asthma, Asymptomatic carrier, Atrophy, Autosome, Benzamide, Biopharmaceutical, Blinded experiment, Branaplam, Butyrate, CD36, Ceftriaxone, Celecoxib, Cell nucleus, Cell-free fetal DNA, Central nervous system, Centromere, Chorionic villus sampling, Chromosome 5, Clinical trial, Cognitive development, Cough, Curcumin, Cystic fibrosis, Deletion (genetics), Denervation, Distal spinal muscular atrophy type 1, Dominance (genetics), Dubowitz syndrome, Dysphagia, Embryo, Entinostat, Eponym, Eukaryote, European Commission, European Medicines Agency, European Union, Exon, Fasciculation, Fat, ..., Fatty acid, Feeding tube, Follistatin, Gastrostomy, Gene, Gene therapy, Genetic testing, Growth hormone, Guido Werdnig, Heart, Heredity, Histone deacetylase inhibitor, Hoffmann-La Roche, Hydroxamic acid, Hydroxycarbamide, Hyporeflexia, Hypotonia, In vitro, In vitro fertilisation, Indoprofen, Intelligence, Intrathecal administration, Intron, Johann Hoffmann (neurologist), Kyphosis, Labored breathing, Life expectancy, Limb (anatomy), Locus (genetics), Media circus, Medical genetics, Morpholino, Motor neuron, Motor neuron disease, Multiplex ligation-dependent probe amplification, Muscle atrophy, Muscle weakness, Muscles of respiration, Mutation, Neuromuscular disease, Neuroprotection, Non-invasive ventilation, Novartis, Novo Nordisk, Nucleotide, Nusinersen, Occupational therapy, Olesoxime, Online Mendelian Inheritance in Man, Open-label trial, Organic acidemia, P38 mitogen-activated protein kinases, Panobinostat, Pfizer, Physical therapy, Pivotal trial, Placebo-controlled study, Pneumonia, Point mutation, Polyphenol, Preimplantation genetic diagnosis, Prenatal testing, Prevalence, Prolactin, Protein, PTC Therapeutics, Quinazoline, Rare disease, Reflex, Repligen, Respiratory system, Resveratrol, RG7916, Riluzole, Salbutamol, Scoliosis, Secretion, Self-complementary adeno-associated virus, Sickle cell disease, Skeletal muscle, Small molecule, SMN1, SMN2, Sodium butyrate, Sodium orthovanadate, Sodium phenylbutyrate, Spinal fusion, Spinal muscular atrophies, Stamina therapy, Stem cell, Stem-cell therapy, Survival of motor neuron, Telomere, Tetracycline, Thyrotropin-releasing hormone, Tracheotomy, Transgene, TREAT-NMD, Trichostatin A, Trophos, Troponin, University College London, University of Oxford, Valproate, Victor Dubowitz, Viral vector, Vorinostat. Expand index (107 more) » « Shrink index
Aclarubicin (INN) or aclacinomycin A is an anthracycline drug that is used in the treatment of cancer.
Agence France-Presse (AFP) is an international news agency headquartered in Paris, France.
Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins.
The American College of Obstetricians and Gynecologists is a professional association of physicians specializing in obstetrics and gynecology in the United States.
Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial therapeutic agents that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside (sugar); the term can also refer more generally to any organic molecule that contains aminosugar substructures.
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND), and Lou Gehrig's disease, is a specific disease which causes the death of neurons controlling voluntary muscles.
Standard anatomical terms of location deal unambiguously with the anatomy of animals, including humans.
Annals of Neurology is a peer-reviewed medical journal covering neurology.
The anterior grey column (also called the anterior cornu, anterior horn of spinal cord or ventral horn) is the front column of grey matter in the spinal cord.
Assistive technology is an umbrella term that includes assistive, adaptive, and rehabilitative devices for people with disabilities while also including the process used in selecting, locating, and using them.
is a Japanese pharmaceutical company, formed on 1 April 2005 from the merger of and.
Asthma is a common long-term inflammatory disease of the airways of the lungs.
An asymptomatic carrier (healthy carrier or just carrier) is a person or other organism that has become infected with a pathogen, but who display no signs nor symptoms.
Atrophy is the partial or complete wasting away of a part of the body.
An autosome is a chromosome that is not an allosome (a sex chromosome).
Benzamide is an off-white solid with the chemical formula of C6H5CONH2.
A biopharmaceutical, also known as a biologic(al) medical product, biological, or biologic, is any pharmaceutical drug product manufactured in, extracted from, or semisynthesized from biological sources.
A blind or blinded-experiment is an experiment in which information about the test is masked (kept) from the participant, to reduce or eliminate bias, until after a trial outcome is known.
Branaplam, also known as LMI070 and NVS-SM1, is a highly potent, selective and orally active small molecule experimental drug being developed by Novartis to treat spinal muscular atrophy (SMA).
Butyrate (also known as butanoate) is the traditional name for the conjugate base of butyric acid (also known as butanoic acid).
CD36 (cluster of differentiation 36), also known as platelet glycoprotein 4, fatty acid translocase (FAT), scavenger receptor class B member 3 (SCARB3), and glycoproteins 88 (GP88), IIIb (GPIIIB), or IV (GPIV) is a protein that in humans is encoded by the CD36 gene.
Ceftriaxone, sold under the trade name Rocephin, is an antibiotic useful for the treatment of a number of bacterial infections.
Celecoxib, sold under the brand name Celebrex among others, is a COX-2 selective nonsteroidal anti-inflammatory drug (NSAID).
In cell biology, the nucleus (pl. nuclei; from Latin nucleus or nuculeus, meaning kernel or seed) is a membrane-enclosed organelle found in eukaryotic cells.
Cell-free fetal DNA (cffDNA) is fetal DNA which circulates freely in the maternal blood.
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
The centromere is the specialized DNA sequence of a chromosome that links a pair of sister chromatids (a dyad).
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
Chromosome 5 is one of the 23 pairs of chromosomes in humans.
Clinical trials are experiments or observations done in clinical research.
Cognitive development is a field of study in neuroscience and psychology focusing on a child's development in terms of information processing, conceptual resources, perceptual skill, language learning, and other aspects of the developed adult brain and cognitive psychology.
A cough is a sudden and often repetitively occurring, protective reflex, which helps to clear the large breathing passages from fluids, irritants, foreign particles and microbes.
Curcumin is a bright yellow chemical produced by some plants.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
Denervation is any loss of nerve supply regardless of the cause.
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), distal hereditary motor neuronopathy type 6 (DHMN6) and severe infantile axonal neuronopathy with respiratory failure (SIANRF), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalized progressive atrophy of body muscles.
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin.
Dysphagia is the medical term for the symptom of difficulty in swallowing.
An embryo is an early stage of development of a multicellular diploid eukaryotic organism.
Entinostat, also known as SNDX-275 and MS-275, is a benzamide histone deacetylase inhibitor undergoing clinical trials for treatment of various cancers.
An eponym is a person, place, or thing after whom or after which something is named, or believed to be named.
Eukaryotes are organisms whose cells have a nucleus enclosed within membranes, unlike Prokaryotes (Bacteria and other Archaea).
The European Commission (EC) is an institution of the European Union, responsible for proposing legislation, implementing decisions, upholding the EU treaties and managing the day-to-day business of the EU.
The European Medicines Agency (EMA) is a European Union agency for the evaluation of medicinal products.
The European Union (EU) is a political and economic union of EUnum member states that are located primarily in Europe.
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
A fasciculation, or muscle twitch, is a small, local, involuntary muscle contraction and relaxation which may be visible under the skin.
Fat is one of the three main macronutrients, along with carbohydrate and protein.
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with a long aliphatic chain, which is either saturated or unsaturated.
A feeding tube is a medical device used to provide nutrition to people who cannot obtain nutrition by mouth, are unable to swallow safely, or need nutritional supplementation.
Follistatin also known as activin-binding protein is a protein that in humans is encoded by the FST gene.
Gastrostomy is the creation of an artificial external opening into the stomach for nutritional support or gastric decompression.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
In the medicine field, gene therapy (also called human gene transfer) is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease.
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
Growth hormone (GH), also known as somatotropin (or as human growth hormone in its human form), is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals.
Guido Werdnig (Ratschach, 20 June 1844 – 26 April 1919) was an Austrian neurologist associated with University of Vienna.
The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.
Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
Histone deacetylase inhibitors (HDAC inhibitors, HDACi, HDIs) are chemical compounds that inhibit histone deacetylases.
A hydroxamic acid is a class of organic compounds bearing the functional group RC(O)N(OH)R', with R and R' as organic residues and CO as a carbonyl group.
Hydroxycarbamide, also known as hydroxyurea, is a medication used in sickle-cell disease, chronic myelogenous leukemia, cervical cancer, and polycythemia vera.
Hyporeflexia refers to below normal or absent reflexes (areflexia).
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
In vitro (meaning: in the glass) studies are performed with microorganisms, cells, or biological molecules outside their normal biological context.
In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm outside the body, in vitro ("in glass").
Indoprofen is a nonsteroidal anti-inflammatory drug (NSAID).
Intelligence has been defined in many different ways to include the capacity for logic, understanding, self-awareness, learning, emotional knowledge, reasoning, planning, creativity, and problem solving.
Intrathecal administration is a route of administration for drugs via an injection into the spinal canal, or into the subarachnoid space so that it reaches the cerebrospinal fluid (CSF) and is useful in spinal anaesthesia, chemotherapy, or pain management applications.
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.
Johann Hoffmann (March 28, 1857 – November 1, 1919) was a German neurologist born in Hahnheim.
Kyphosis (from Greek κυφός kyphos, a hump) is an abnormally excessive convex kyphotic curvature of the spine as it occurs in the cervical, thoracic and sacral regions.
Labored respiration or labored breathing is an abnormal respiration characterized by evidence of increased effort to breathe, including the use of accessory muscles of respiration, stridor, grunting, or nasal flaring.
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.
A limb (from the Old English lim), or extremity, is a jointed, or prehensile (as octopus arms or new world monkey tails), appendage of the human or other animal body.
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
Media circus is a colloquial metaphor, or idiom, describing a news event for which the level of media coverage — measured by such factors as the number of reporters at the scene and the amount of material broadcast or published — is perceived to be excessive or out of proportion to the event being covered.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
A Morpholino, also known as a Morpholino oligomer and as a phosphorodiamidate Morpholino oligomer (PMO), is a type of oligomer molecule (colloquially, an oligo) used in molecular biology to modify gene expression.
A motor neuron (or motoneuron) is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly or indirectly control effector organs, mainly muscles and glands.
A motor neuron disease (MND) is any of several neurodegenerative disorders that selectively affect motor neurons, the cells that control voluntary muscles of the body.
Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair.
Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete wasting away of muscle, and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and/or confined to bed as when hospitalized.
Muscle weakness or myasthenia (my- from Greek μυο meaning "muscle" + -asthenia ἀσθένεια meaning "weakness") is a lack of muscle strength.
The muscles of respiration are those muscles that contribute to inhalation and exhalation, by aiding in the expansion and contraction of the thoracic cavity.
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions.
Neuroprotection refers to the relative preservation of neuronal structure and/or function.
Non-invasive ventilation (NIV) is the use of airway support administered through a face (nasal) mask instead of an endotracheal tube.
Novartis International AG is a Swiss multinational pharmaceutical company based in Basel, Switzerland.
Novo Nordisk A/S is a Danish multinational pharmaceutical company headquartered in Bagsværd, Denmark, with production facilities in eight countries, and affiliates or offices in 75 countries.
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
Nusinersen, marketed as Spinraza, is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder.
Occupational therapy (OT) is the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or occupations, of individuals, groups, or communities.
Olesoxime (TRO19622) is an experimental neuroprotective drug.
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
An open-label trial, or open trial, is a type of clinical trial in which both the researchers and participants know which treatment is being administered.
Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.
P38 mitogen-activated protein kinases are a class of mitogen-activated protein kinases (MAPKs) that are responsive to stress stimuli, such as cytokines, ultraviolet irradiation, heat shock, and osmotic shock, and are involved in cell differentiation, apoptosis and autophagy.
Panobinostat (trade name Farydak) is a drug by Novartis for the treatment of various cancers.
Pfizer Inc. is an American pharmaceutical conglomerate headquartered in New York City, with its research headquarters in Groton, Connecticut.
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
A pivotal trial is a clinical trial or study intended to provide evidence for a drug marketing approval, e.g. by the United States Food and Drug Administration.
Placebo-controlled studies are a way of testing a medical therapy in which, in addition to a group of subjects that receives the treatment to be evaluated, a separate control group receives a sham "placebo" treatment which is specifically designed to have no real effect.
Pneumonia is an inflammatory condition of the lung affecting primarily the small air sacs known as alveoli.
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.
Polyphenols (also known as polyhydroxyphenols) are a structural class of mainly natural, but also synthetic or semisynthetic, organic chemicals characterized by the presence of large multiples of phenol structural units.
Pre-implantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.
Prevalence in epidemiology is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seat-belt use).
Prolactin (PRL), also known as luteotropic hormone or luteotropin, is a protein that is best known for its role in enabling mammals, usually females, to produce milk.
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
PTC Therapeutics is a US pharmaceutical company focused on the development of orally administered small molecule drugs that regulate gene expression by targeting post-translational control (PTC) mechanisms in orphan diseases.
Quinazoline is an organic compound with the formula C8H6N2.
A rare disease is any disease that affects a small percentage of the population.
A reflex, or reflex action, is an involuntary and nearly instantaneous movement in response to a stimulus.
Repligen is an American company devoted to the development and production of materials used in the manufacture of biological drugs.
The respiratory system (also respiratory apparatus, ventilatory system) is a biological system consisting of specific organs and structures used for gas exchange in animals and plants.
Resveratrol (3,5,4′-trihydroxy-trans-stilbene) is a stilbenoid, a type of natural phenol, and a phytoalexin produced by several plants in response to injury or, when the plant is under attack by pathogens such as bacteria or fungi.
RG7916, also known as RO7034067, is a highly potent, selective and orally active small molecule experimental drug being developed by F. Hoffmann-La Roche, PTC Therapeutics and SMA Foundation to treat spinal muscular atrophy (SMA).
Riluzole (marketed as Rilutek and Teglutik) is a drug used to treat amyotrophic lateral sclerosis.
Salbutamol, also known as albuterol and marketed as Ventolin among other names, is a medication that opens up the medium and large airways in the lungs.
Scoliosis is a medical condition in which a person's spine has a sideways curve.
Secretion is the movement of material from one point to another, e.g. secreted chemical substance from a cell or gland.
Self-complementary adeno-associated virus (scAAV) is a viral vector engineered from the naturally occurring adeno-associated virus (AAV) to be used as a tool for gene therapy.
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.
Skeletal muscle is one of three major muscle types, the others being cardiac muscle and smooth muscle.
Within the fields of molecular biology and pharmacology, a small molecule is a low molecular weight (< 900 daltons) organic compound that may regulate a biological process, with a size on the order of 1 nm.
Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.
Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein (full and truncated) in humans.
Sodium butyrate is a compound with formula Na(C3H7COO).
Sodium orthovanadate is the inorganic compound with the chemical formula Na3VO4·2H2O (sodium orthovanadate dihydrate).
Sodium phenylbutyrate is a salt of an aromatic fatty acid, 4-phenylbutyrate (4-PBA) or 4-phenylbutyric acid.
Spinal fusion, also called spondylodesis or spondylosyndesis, is a neurosurgical or orthopedic surgical technique that joins two or more vertebrae.
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body.
Stamina therapy (also known as Stamina method, or simply Stamina) is a controversial alternative "medical treatment" invented by Italian former professor of psychology at the University of Udine Davide Vannoni, (born 1967 in Turin), founder and president of Stamina Foundation (a self-declared nonprofit organization founded in 2009) and owner of a market research company.
Stem cells are biological cells that can differentiate into other types of cells and can divide to produce more of the same type of stem cells.
Stem-cell therapy is the use of stem cells to treat or prevent a disease or condition.
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.
A telomere is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes.
Tetracycline, sold under the brand name Sumycin among others, is an antibiotic used to treat a number of infections.
Thyrotropin-releasing hormone (TRH), also called thyrotropin-releasing factor (TRF) or thyroliberin, is a releasing hormone, produced by the hypothalamus, that stimulates the release of thyrotropin (thyroid-stimulating hormone or TSH) and prolactin from the anterior pituitary.
Tracheotomy, or tracheostomy, is a surgical procedure which consists of making an incision on the anterior aspect of the neck and opening a direct airway through an incision in the trachea (windpipe).
A transgene is a gene or genetic material that has been transferred naturally, or by any of a number of genetic engineering techniques from one organism to another.
TREAT-NMD (treat NeuroMuscular Disease) is a global academic network that focuses on advancing research in neuromuscular disorders.
Trichostatin A (TSA) is an organic compound that serves as an antifungal antibiotic and selectively inhibits the class I and II mammalian histone deacetylase (HDAC) families of enzymes, but not class III HDACs (i.e., sirtuins).
Trophos was a biopharmaceutical company specialising in the discovery and development of novel therapeutics to treat both orphan neurodegenerative diseases and more prevalent disorders.
University College London (UCL) is a public research university in London, England, and a constituent college of the federal University of London.
The University of Oxford (formally The Chancellor Masters and Scholars of the University of Oxford) is a collegiate research university located in Oxford, England.
Valproate (VPA), and its valproic acid, sodium valproate, and valproate semisodium forms, are medications primarily used to treat epilepsy and bipolar disorder and to prevent migraine headaches.
Victor Dubowitz FRCP, Hon FRCPCH (born 6 August 1931) is a British neurologist and professor emeritus at Imperial College London.
Viral vectors are tools commonly used by molecular biologists to deliver genetic material into cells.
Vorinostat (rINN) also known as suberanilohydroxamic acid (suberoyl+anilide+hydroxamic acid abbreviated as SAHA) is a member of a larger class of compounds that inhibit histone deacetylases (HDAC).
5q spinal muscular atrophy, Adult Spinal Muscular Atrophy, Adult spinal muscular atrophy, Dubowitz disease, Hoffmann syndrome, Hoffmann's syndrome, Infantile spinal muscular atrophy, Juvenile Spinal Muscular Atrophy, Kugelberg-Welander disease, Kugelberg-Welander syndrome, Kugelberg–Welander disease, Muscular atrophy, spinal, Proximal spinal muscular atrophy, RG3039, SMA0, SMA1, SMA2, SMA3, Spinal Muscular Atrophy, Spinal muscular atrophies of childhood, Spinal muscular atrophy type 0, Spinal muscular atrophy type 1, Spinal muscular atrophy type 2, Spinal muscular atrophy type 3, Spinal muscular atrophy type 4, Survival motor neuron spinal muscular atrophy, Werdnig-Hoffman disease, Werdnig-Hoffman syndrome, Werdnig-Hoffmann disease, Werdnig-Hoffmann syndrome, Werdnig–Hoffman disease, Werdnig–Hoffman syndrome, Werdnig–Hoffmann disease.