Group of inherited neuromuscular diseases disease spinal muscular atrophy muscular atrophy spinal. Medical search. Frequent questions

Eager to improve the lives of neuromuscular patients, researchers are investigating muscle development and gene therapy approaches for Duchenne muscular dystrophy that will replace dystrophin, the protein missing in this disease, but will also then be modifiable to improve myotonic dystrophy, spinal muscular atrophy, congenital myopathies, familial neuropathies, and many other neuromuscular disorders. (stanford.edu)
The progression of BMD is slower and more variable than Duchenne muscular dystrophy but usually results in the need for a wheel chair. (ericpedersen.org)
Duchenne muscular dystrophy is an x-linked recessive genetic disease that is also caused by mutations in the DMD gene. (ericpedersen.org)
The DMD gene mutations that cause Duchenne muscular dystrophy result in little or no dystrophin protein to be made. (ericpedersen.org)
For more information about this condition, choose "Duchenne" as your search term in the Rare Disease Database. (ericpedersen.org)
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. (ucl.ac.uk)
Background: Clinical medical management guidelines of Duchenne muscular dystrophy (DMD) emphasize prevention and early identification and treatment. (iospress.com)
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. (medscape.com)
Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics) . (medscape.com)
Donders J, Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. (medscape.com)
Intelligence and the gene for Duchenne muscular dystrophy. (medscape.com)
Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. (medscape.com)
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. (medscape.com)
Sussman MD. Advantage of early spinal stabilization and fusion in patients with Duchenne muscular dystrophy. (medscape.com)
Surgical stabilization of the spine in Duchenne muscular dystrophy. (medscape.com)
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. (medscape.com)
[ 5 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
Laurent has been involved as principal investigator in numerous clinical trials to test treatments for Duchenne muscular dystrophy and spinal muscular atrophy (SMA). (ox.ac.uk)
Tamoxifen in children with Duchenne muscular dystrophy. (ox.ac.uk)
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy. (institut-myologie.org)
Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy. (institut-myologie.org)
Duchenne muscular dystrophy is known for getting worse much more. (nicklauschildrens.org)

MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases. (brainfacts.org)
Bushby K. Genetics and the muscular dystrophies. (medscape.com)
In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)
Congenital muscular dystrophy refers to a group of muscular dystrophies that are present at birth or shortly afterward. (nicklauschildrens.org)
Some neurogenic atrophies, however, may mimic some muscular dystrophies or myopathies, such as distal myopathies. (musculoskeletalkey.com)

Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function. (wikipedia.org)

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)
They are exploring the epidemiology, natural history, and disease patterns of brain tumors in childhood, as well as conducting multiple clinical trials for these neoplasms. (stanford.edu)
Stanford clinical investigators are helping identify the genetic causes of peripheral nerve and muscle disorders, and are helping define the molecular mechanisms underlying one of the most common forms of muscular dystrophy, myotonic dystrophy. (stanford.edu)
His preclinical and clinical research program is primarily focused on translational neuromuscular physiology in the context of health, aging, and disease and investigating the biology of aging as a unifying risk factor across diseases. (cmtrf.org)
Dr. Arnold's clinical work is focused on genetic and acquired neuromuscular disorders. (cmtrf.org)
Clinical phenotypes are grouped into five forms depending on the severity of the disease and the age of onset. (dovepress.com)
The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
Dobrowski JM, Zajtchuk JT, LaPiana FG, Hensley SD Jr. Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. (medscape.com)
2 In addition, the varied clinical presentations of MND also include (i) progressive muscle atrophy (PMA, ~ 10% of MND cases), a clinically pure lower motor neuron (LMN) phenotype, (ii) primary lateral sclerosis (PLS, 1-3% of MND cases), a clinically pure upper motor neuron (UMN) phenotype and (iii) progressive bulbar palsy (PBP, 1-2% of MND cases), an isolated bulbar phenotype with relative preservation of spinal motor neurons. (acnr.co.uk)
Each of these neuromuscular diseases will produce lower motor neuron (LMN) disease, however significant variations in clinical signs may occur. (vin.com)
Neuromuscular junction disorders ("junctionopathies") result in a variety of clinical signs that range from flaccid paralysis to exercise-induced weakness. (vin.com)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of DYNC2H1. (bvsalud.org)
In 2008, he took a position in neuromuscular disease and clinical research at the Institute of Myology in Paris, where his interest and expertise in neuromuscular diseases flourished. (ox.ac.uk)
Our aim is to conduct in the best condition possible phase 1-3 clinical trial in neuromuscular diseases. (ox.ac.uk)
AIM: To investigate molecular, clinical and genealogical characteristics of SPG4 in a first representative Russian group, to estimate SPG4 proportion among all DNA-diagnosed spastic paraplegias. (hspersunite.org.au)
This will likely be the first of many approvals using AAV as there are a number of other AAV products currently in clinical testing in eye gene therapy and in other diseases such as hemophilia. (asgct.org)
There are many inherited and acquired clinical disorders caused by a defect in upper or lower motor neurone or the peripheral nerve. (musculoskeletalkey.com)
The hereditary peripheral neuropathies are a heterogeneous group of disorders encompassing several clinical syndromes with dominant or recessive inheritance. (musculoskeletalkey.com)
This method provided a disciplined and systematic approach to classify neurological diseases based on integrating clinical signs and anatomical lesions. (freedissertation.com)
Advances in molecular genetics have help in the discovery of significant information on the relationship between muscle biology and clinical neuromuscular diseases. (medscape.com)

In men, the disease slowly progresses over decades with bulbar and lower motor neuron loss, muscle denervation, and direct skeletal muscle involvement. (wikipedia.org)
The term muscular dystrophy (MD) refers to a heterogeneous group of genetic disorders that typically result in progressive degeneration followed by incomplete regeneration of skeletal muscles, ultimately resulting in the loss of contractile tissue. (medscape.com)
Neuromuscular diseases are a group of acquired or inherited diseases affecting the peripheral nervous system and the skeletal muscle. (umn.edu)
Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that causes problems with the skeletal muscles and the heart. (nicklauschildrens.org)
Spinal Muscular Atrophies (SMAs) 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. (msdmanuals.com)

Shortly after conception, when cells are just beginning to develop, the brain and the spinal cord are formed from a structure called the embryonic neural tube. (christopherreeve.org)
An opening in the spine occurs if the spinal cord section of the neural tube does not fold and close completely. (christopherreeve.org)
Spina Bifida Occulta is a mild form of spina bifida where the spine is open, but the spinal cord is not out of the usual placement. (christopherreeve.org)
The spinal cord nerves do not extend into this pouch. (christopherreeve.org)
Myelomeningocele diagnosis is a pouch on the back that includes cerebral spinal fluid and part of the spinal cord and nerves. (christopherreeve.org)
Commonly known as Lou Gehrig's disease, ALS is a progressive neurodegenerative disease that primarily affects motor neurons in the brain and spinal cord. (gshs.org)
These disorders include motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which may involve motor neurons in the brain, spinal cord, and periphery, ultimately weakening the muscle. (medscape.com)
Spinal muscular atrophy (SMA) is an autosomal recessive, inherited genetic disease characterized by degeneration of alpha motor neurons in the spinal cord. (dovepress.com)
Our researchers are looking for new ways to promote the growth of healthy cells in the brain and spinal cord of children with disorders affecting their central nervous systems (CNS). (nemours.org)
Each year, it's estimated that more than 2 million people in the United States alone sustain traumatic brain injuries and approximately 12,000 new cases are annually added to an estimated 400,000 patients with spinal cord injuries. (nemours.org)
The Clostridium tetani exotoxin interferes with release of neurotransmitters from inhibitory interneurons in the spinal cord. (vin.com)
It impacts the peripheral nerves, which are the nerves outside the brain and spinal cord. (nicklauschildrens.org)
Hereditary neuropathy is a medical term that refers to a group of different inherited medical conditions that cause progressive loss of function (and sensation) from abnormally working nerves that carry signals from the spinal cord to muscles. (nicklauschildrens.org)
When the curvature is caused by problems related to the spinal cord, the brain or the muscles of the body, it can be classified as neuromuscular scoliosis. (nicklauschildrens.org)
Overview of Peripheral Nervous System Disorders The peripheral nervous system refers to parts of the nervous system outside the brain and spinal cord. (msdmanuals.com)
Upper MNDs (eg, primary lateral sclerosis) affect neurons of the motor cortex, which extend to the brain stem (corticobulbar tracts) or spinal cord (corticospinal tracts). (msdmanuals.com)
Lateral indicates the location in the spinal cord, responsible for effective functioning of neurons. (freedissertation.com)
[1] ALS is a progressive disorder that involves degeneration of the upper motor neurons (UMN) in the frontal lobe of the brain and the lower motor neurons (LMN) in the brain stem and the spinal cord. (freedissertation.com)
Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. (medscape.com)
SMAs were first described in the 1890s, by Guido Werdnig, a physician from the University of Vienna, in his lecture "On a Case of Muscular Dystrophy with Positive Spinal Cord Findings. (medscape.com)
Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
Muscle atrophy, caused by a progressive loss of the anterior horn cells in the spinal cord, is universal. (medscape.com)

Limb-girdle muscular dystrophy is a group of inherited, progressive disorders that are characterized by weakness and of muscles of the hip and shoulder areas. (ericpedersen.org)
Limb-girdle muscular dystrophy (LGMD) refers to a group of disorders that manifest as weakness and wasting of arm and leg muscles, with muscles of the shoulders, upper arms, pelvic area, and thighs being most frequently involved. (medscape.com)
Mutations in all sarcoglycans, in dysferlin, and in caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan, can result in limb-girdle muscular dystrophy. (medscape.com)
Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)

Surprisingly, he also demonstrated a brisk crossed adductor response that was not in keeping with an isolated primary neuro-muscular disorder and suggested a mixed upper and lower motor neuron pathology. (bvsalud.org)
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)

This program provides comprehensive services statewide for individuals and families with neuromuscular disorders through outreach clinics and statewide, active surveillance for selected neuromuscular disorders. (iowa.gov)

The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)

There are different types of motor neuropathies, including multifocal motor neuropathy (MMN), which is a rare disease that affects the body's motor nerves . (gshs.org)
NMDs also include peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT), which affect not only motor but also sensory nerves. (medscape.com)
Charcot-Marie-Tooth encompasses a group of inherited, chronic peripheral neuropathies that result in nerve degradation. (cmtrf.org)
Inherited neuropathies in which autonomic or sensory features predominate, conditions in which the neuropathy is part of a multiple-organ disturbance, and neuropathies with specific metabolic dysfunction are not discussed. (medscape.com)

As the novel coronavirus pandemic has called for vigilance in health safety measures such as social distancing - especially for people with neuromuscular disease who are at higher risk for severe illness related to COVID-19 - many of us have had to rethink how we do what we need to do. (mda.org)
We looked at the evidence on ways to increase physical activity in people with neuromuscular disease. (cochrane.org)
However, many people with neuromuscular disease live with disability and face barriers to being more physically active. (cochrane.org)
In terms of time spent physically active, we are uncertain whether any intervention promoted physical activity in people with neuromuscular disease. (cochrane.org)

Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. (brainfacts.org)
The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. (brainfacts.org)
[12] The remaining 5% to 10% of cases have a genetic cause, often linked to a history of the disease in the family , and these are known as familial ALS (hereditary). (wikipedia.org)
Proportion of familial cases was 68%, pedigrees with 'missing' disease in elderly carriers pointed to incomplete penetrance. (hspersunite.org.au)

Neuromuscular symptoms include muscle weakness and wasting of the limb, bulbar and respiratory muscles, tremor, fasciculations, muscle cramps, speech and swallowing difficulties, decreased or absent deep tendon reflexes, and sensory neuropathy. (wikipedia.org)
Patients with complete androgen insensitivity syndrome do not show symptoms of SBMA, indicating neuromuscular symptoms are not caused by a loss of AR function. (wikipedia.org)
Many neuromuscular symptoms and the person's quality of life can be improved with medical monitoring, early intervention, and supportive care in the home and community. (iowa.gov)
Becker muscular dystrophy usually begins in the teens or early twenties and symptoms vary greatly between affected individuals. (ericpedersen.org)
Symptoms of Becker muscular dystrophy usually begin in the teens or late twenties. (ericpedersen.org)
Symptoms of the following disorders can be similar to those of Becker muscular dystrophy (BMD). (ericpedersen.org)
Type III (SMA3) or Kugelberg-Welander disease causes symptoms after the age of 18 months, and these patients acquire autonomous ambulation. (dovepress.com)
[3] The goal of treatment is to slow the disease progression, and improve symptoms. (wikipedia.org)
Muscular dystrophy is a genetic condition characterized by progressive muscle weakness, difficulties with movement and other symptoms. (nicklauschildrens.org)
Symptoms vary in severity and may include muscle weakness and atrophy, fasciculations, emotional lability, and respiratory muscle weakness. (msdmanuals.com)
symptoms usually include muscle weakness and atrophy, fasciculations (visible muscle twitches), and muscle cramps, initially in a hand, a foot, or the tongue. (msdmanuals.com)
Postpoliomyelitis Syndrome Postpoliomyelitis syndrome is a group of symptoms that develops years or decades after paralytic poliomyelitis and usually affects the same muscle groups as the initial infection. (msdmanuals.com)
Most patients with ALS present with random, asymmetric symptoms, consisting of cramps, weakness, and muscle atrophy of the hands (most commonly) or feet. (msdmanuals.com)
Age of onset, symptoms, characteristics of SMA and disease severity differ greatly from one child to the next. (togetherinsma.eu)
Symptoms may include progressive muscle weakness, floppiness, and muscle wasting (atrophy). (togetherinsma.eu)
Each child may experience symptoms differently, and the disease is divided into types based on age of onset and functional ability. (togetherinsma.eu)
Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. (medscape.com)
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)

We are highly encouraged by these data showing infants treated with risdiplam surviving and achieving developmental milestones beyond the natural history of this devastating disease," said Sandra Horning, MD, Roche's Chief Medical Officer and Head of Global Product Development. (myscience.ch)
Of the patients treated with risdiplam for at least one year (n=30), the median change from baseline in Motor Function Measure (MFM), the primary endpoint in the confirmatory part of SUNFISH and a scale used to assess motor function in neuromuscular diseases, was a 3.1 point improvement. (myscience.ch)
Roche has announced data from its SUNFISH trial, evaluating risdiplam (RG7916) in people aged two to 25 years with type II or III spinal muscular atrophy (SMA). (pharmatimes.com)

The disorder leads to muscle weakness and atrophy. (medlineplus.gov)
They described adult patients with a pelvic and femoral distribution of weakness and atrophy with a benign course. (medscape.com)
Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower limb muscles. (bvsalud.org)

A group of disorders characterized by degeneration and loss of motor neurons. (vin.com)
Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei, or a combination. (msdmanuals.com)
As the degeneration advances, the muscles gradually weaken and atrophies, losing its ability to control voluntary movements. (freedissertation.com)
In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
Spinal muscular atrophy (SMA) is caused by successive motor unit degeneration. (medscape.com)
A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. (bvsalud.org)

Myopathies are diseases that impact the muscles. (nicklauschildrens.org)

ATLANTA (August 14, 2023) CMT Research Foundation (CMTRF), a patient-led, non-profit focused on delivering treatments and cures for Charcot-Marie-Tooth (CMT) disease*, today announced that Dr. W. David (Dave) Arnold has joined the Foundation's Scientific Advisory Board (SAB). (cmtrf.org)

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)
SMA is an autosomal recessive inherited disorder, meaning both copies of the inherited gene (one from each parent) must be defective. (scienceboard.net)
Comparative gene mapping among human, murine, and canine genomes have the potential to rapidly identify mutations that underlie various disease syndromes. (stanford.edu)
As part of a multidisciplinary team at the Ohio State University and Nationwide Children's Hospital, he was involved in the preclinical development and then the first-in-human gene therapy study for spinal muscular atrophy, a disorder that previously represented the most common genetic cause of death in infants. (cmtrf.org)
Usually result from gene changes, which can be inherited or "run in families" or occur as a new genetic change. (iowa.gov)
Becker muscular dystrophy is in the category of inherited muscle wasting diseases caused by a gene abnormality (mutation) that results in deficient or abnormal production of the dystrophin protein (dystrophinopathies). (ericpedersen.org)
Becker muscular dystrophy is caused by abnormalities (mutations) in the DMD gene that is responsible for the production of the dystrophin protein. (ericpedersen.org)
The DMD gene is located on the X chromosome and Becker muscular dystrophy follows x-linked recessive inheritance. (ericpedersen.org)
Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. (ericpedersen.org)
A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. (ericpedersen.org)
Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. (ericpedersen.org)
Vulnerable groups and the hollow promise of benefit from human gene editing. (cdc.gov)
The Becker type is inherited as an autosomal recessive trait, meaning it is produced when both parents contribute a defective gene. (mda.org)
González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. (medscape.com)
RNA therapeutics, like siRNA and antisense oligonucleotides, are powerful therapeutic modalities that can theoretically inhibit the expression of any disease-causing gene. (cellandgene.com)
The Lissencephaly 1 gene, LIS1, is genetically linked to the dynein pathway from fungi to mammals and is mutated in people with the neurodevelopmental disease lissencephaly. (bvsalud.org)
The inherited neuropathy gene panel revealed a heterozygous sequence change in the DYNC1H1 gene which was present in all affected family members. (bvsalud.org)
A small number of adult-onset neurological conditions are due primarily to a single gene mutation A pathogenic variant is a genetic variant that increases an individual's susceptibility or predisposition to certain diseases. (racgp.org.au)
There are some more common neurological and neuromuscular conditions that have subsets due to specific gene variants Gene variants are small DNA sequence changes (ie additions, duplications, deletions, substitutions). (racgp.org.au)
The vast majority of gene variants are benign and do not result in disease but rather contribute to the differences between people. (racgp.org.au)
This was a particular milestone as Luxturna is not only the first directly administered in vivo gene therapy approved in the United States but also the first approval to target a genetic disease and the first to use AAV. (asgct.org)
Dr. Kathy High who will deliver the George Stamatoyannopoulos lecture at the upcoming Annual Meeting will provide an overview of the development and future directions of AAV gene therapy strategies to treat genetic diseases. (asgct.org)
Spinal muscular atrophy type 1 (SMA1) is the most common genetic cause of death in infants resulting from bi-allelic mutations of the survival motor neuron gene (SMN1, telomeric), located on chromosome 5q13.2. (asgct.org)
Currently, her research is on gene therapy treatments for patients with Charcot-Marie-Tooth disease (CMT). (missouri.edu)
Baker hopes the stigma surrounding gene therapy decreases over time as more people use it for different diseases, and it'll become more accessible. (missouri.edu)

The neuromuscular junction may also be directly involved in diseases such as myasthenia gravis (MG). (medscape.com)
Myasthenia gravis is a condition that results from either an inherited or an acquired reduction of acetylcholine receptors of neuromuscular junctions. (vin.com)

The most severe form is SMA type I, also called Werdnig-Hoffman disease. (medlineplus.gov)
SMA type III is a less severe form of the disease. (medlineplus.gov)
Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. (pharmatimes.com)
Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. (brainfacts.org)
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)
Becker is the more common and more severe form of the disease. (mda.org)

Inherited diseases in dogs reliably replicate many hereditary diseases in humans. (stanford.edu)
in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)

This disease leads to muscle weakness, wasting, and eventual paralysis of the voluntary muscles. (gshs.org)
Myotonia congenita is an inherited myopathy that prevents affected individuals from relaxing certain muscles after contracting them. (mda.org)
On the contrary, it often leads to larger, stronger muscles.There are two types of myotonia congenita: Becker disease and Thomsen disease. (mda.org)
Amyotrophic lateral sclerosis ( ALS ), also known as motor neurone disease ( MND ) or Lou Gehrig's disease , is a rare and terminal neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles . (wikipedia.org)
ALS is a motor neuron disease , which is a group of neurological disorders that selectively affect motor neurons , the cells that control voluntary muscles of the body. (wikipedia.org)
[ 11 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
16 Extra-ocular and sphincter muscles are preserved until advanced stages of the disease, 17 and sensory nerves are not typically affected. (acnr.co.uk)
This guidance is relevant to people with health conditions, including neuromuscular diseases, which affect the way that muscles and nerves work. (cochrane.org)
Becker's muscular dystrophy is a disorder that causes the muscles of the pelvis and legs to get gradually weaker over time. (nicklauschildrens.org)
Facioscapulohumeral muscular dystrophy is a common muscular dystrophy which affects certain muscles of the body causing muscle weakness and wasting (atrophy). (nicklauschildrens.org)

Feline neuromuscular diseases may be classified according to their location as those involving peripheral nerves and/or nerve roots, those involving the neuromuscular junction, and those that involve muscle (1). (vin.com)

Titin copy number variations associated with dominant inherited phenotypes. (ox.ac.uk)

Patients with muscular dystrophy should be managed through a clinic with access to specialties that address neuromuscular disorders, including physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics. (medscape.com)
As with other neuromuscular diseases such as muscular dystrophy or spinal muscular atrophy, children have in rare cases died because of respiratory failure. (cmtausa.org)
When we see patients with impaired respiratory function, we have them evaluated by a pulmonologist (lung specialist) who has experience in neuromuscular diseases including CMT. (cmtausa.org)

Motor neuropathy is a group of disorders that affect the nerves responsible for controlling muscle movements. (gshs.org)
It includes the cranial nerves and spinal nerves from their origin to their end. (msdmanuals.com)
This inherited nerve disease causes abnormalities in the nerves in feet, hands, legs, and arms. (missouri.edu)

SMA is a rare neuromuscular disorder. (scienceboard.net)
Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. (ericpedersen.org)
The disorder causes muscle stiffness but not atrophy or shrinkage. (mda.org)
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. (bvsalud.org)

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. (medscape.com)

Unlike 50 years ago, when intermediate SMA was considered a life-limiting condition, developments in medical and lay knowledge about treating scoliosis (spinal curvature), chest clearance to remove obstructions from the lungs during a chest infection and physiotherapy have meant that individuals are often (although not always) able to live full and satisfying lives. (progress.org.uk)
Almenrader N, Patel D. Spinal fusion surgery in children with non-idiopathic scoliosis: is there a need for routine postoperative ventilation? (medscape.com)

Lorson, a principal investigator at Bond LSC, co-founded Shift Pharmaceuticals to focus on treatment for patients with spinal muscular atrophy (SMA), an inherited motor neuron disease. (missouri.edu)

Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)

Of the inherited nerve disorders, Charcot-Marie-Tooth syndrome is one of the most common. (nicklauschildrens.org)
We receive a number of questions in our CMT clinic about how Charcot-Marie-Tooth disease affects breathing . (cmtausa.org)

After having raised international natural history study in Spinal Muscular Atrophy and in X-linked Myotubular Myopathy, our group is currently working on an international natural history in Nemaline myopathy (Insert the link to ENMC Workshop) and in Angelman Syndrome. (ox.ac.uk)
A congenital myopathy is a muscle disease that is present at birth. (nicklauschildrens.org)
An inflammatory myopathy is a disease that is chronic and involves inflammation, muscle weakness and sometimes muscle pain. (nicklauschildrens.org)
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p. (uke.de)

In this section, we will discuss some of the most common forms of motor neuropathy, including amyotrophic lateral sclerosis (ALS) , multifocal motor neuropathy (MMN) , primary lateral sclerosis, spinal muscular atrophy, and Kennedy's disease. (gshs.org)

21 new mutations in SPAST were discovered amongst the 43 total SPAST mutations identified, adding significantly to the grand total of SPG4 disease associated mutations identified that now likely number around 400 or more. (hspersunite.org.au)

Most neuromuscular diseases (NMDs) are incurable. (medscape.com)
The large majority of these diseases are currently incurable. (umn.edu)
1 It is the most common genetic cause of child mortality and has long been considered an incurable disease. (dovepress.com)

His major area of research interest is in the field of neurophysiology, neurodegenerative diseases, and neuroimmunology in particular assessment of cortical function in amyotrophic lateral sclerosis and multiple sclerosis. (acnr.co.uk)
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease (MND). (msdmanuals.com)
Amyotrophic lateral sclerosis or commonly known as ALS is one of the major neurodegenerative diseases alongside Alzheimer's disease and Parkinson's disease in the United States. (freedissertation.com)
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease. (freedissertation.com)
[3] Because of Charcot's fundamental contributions, the term "Charcot's disease" is used as a synonym for amyotrophic lateral sclerosis. (freedissertation.com)

PLS is a rare and slowly progressive motor neuron disease that mainly affects the upper motor neurons. (gshs.org)
Motor neuron disease" and "Motor neurone disease" redirect here. (wikipedia.org)
For a group of muscle-wasting disorders, see Motor neuron diseases . (wikipedia.org)
[3] ALS is the most common form of the motor neuron diseases . (wikipedia.org)
Motor neuron disease (MND) encompasses a group of rapidly progressive and universally fatal neurodegenerative disorders of the human motor system, first described in the mid-19th century by the French Neurologist Jean Martin Charcot. (acnr.co.uk)
ALS is the most frequent adult-onset motor neuron disease. (freedissertation.com)

641-4.6(136A) Neuromuscular and other related genetic disease program (NMP). (iowa.gov)

eg early-onset Alzheimer disease and early-onset Parkinson disease). (racgp.org.au)

By evaluating the pathology and physiologic function or behavior in animals, we can begin to design rational interventional strategies to prevent, treat, or to delay the onset of neurodegenerative diseases. (stanford.edu)

Supportive care is focused on preventing disease complications and maintaining independence. (wikipedia.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)

The disease causes progressive muscle loss with weakness, fasciculations, and cramps. (wikipedia.org)
CMT patients suffer from progressive muscle atrophy of legs and arms, causing walking, running and balance problems as well as abnormal functioning of hands and feet. (cmtrf.org)
7 SMA2 and SMA3 progress more slowly than SMA1 but are clearly progressive diseases, even in adulthood. (dovepress.com)
Bulbar-onset disease may be evident in 20-25% of patients, characterised by progressive dysarthria, dysphagia, hoarseness, tongue wasting, weakness and fasciculations as well as emotional lability. (acnr.co.uk)
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)

Some diseases have specific treatments that can dramatically improve outcomes, including prolonging life. (iowa.gov)
We also have early and encouraging preclinical target repression data in skin, heart and lung tissue, demonstrating a rich opportunity to develop new treatments for diseases in many therapeutic areas that were previously untreatable with RNA therapies. (cellandgene.com)

They are no longer so encumbered by the medical complications that can accompany such neuromuscular conditions, the most concerning of which remains susceptibility to chest infections such as pneumonia. (progress.org.uk)
This can lead to a number of complications as the disease progresses. (nicklauschildrens.org)

Hoffmann called the syndrome spinale muskelatrophie (spinal muscular atrophy). (medscape.com)

Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (medscape.com)

Diagnosis and treatment of motor neuropathy depend on the underlying cause and severity of the disease. (gshs.org)
Sphingomyelinase-deficiency polyneuropathy' hyperchylomicronemia-associated neuropathy, hyperoxaluric peripheral neuropathy, hypertrophic polyneuropathy, and Birman cat distal polyneuropathy are examples of inherited polyneuropathies. (vin.com)

It is the most common genetic cause of infant mortality and one of the most common rare diseases, affecting approximately one in 11,000 babies. (pharmatimes.com)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. (brainfacts.org)
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. (cdc.gov)
MG in a rare chronic autoimmune disease in children of all ages, it is characterized by muscle weakness of varying degree in many different areas of the body, it commonly affects the eyes, mouth, throat, arms and legs. (nicklauschildrens.org)
She also helps with the SMA projects and SMARD1 project, a rare type of spinal muscular atrophy. (missouri.edu)
SMA is a rare, genetic neuromuscular disease 1,2 and a leading genetic cause of infant and toddler mortality. (togetherinsma.eu)
In these rare cases, patients suffer from what is called "restrictive" lung disease and become unable to breathe without ventilator support. (cmtausa.org)

Anatomy14

Organisms1

Diseases36

Chemicals and Drugs13

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Phenomena and Processes13

Disciplines and Occupations1

Duchenne23

Dystrophies5

Bulbar muscular atrophy1

Clinical21

Skeletal5

Cord22

Limb-girdle mu4

Lower motor2

Individuals and families with neuromuscular1

Journal of Neuromuscular Diseases1

Neuropathies4

People with neuromuscular disease4

Familial4

Symptoms18

Risdiplam3

Weakness and atrophy3

Degeneration6

Myopathies1

20231

Gene25

Myasthenia2

Severe6

Hereditary2

Muscles10

Peripheral nerves1

Phenotypes1

Respiratory3

Nerves3

Disorder4

Congenital muscular1

Scoliosis2

Patients with spinal1

Neurological1

Charcot-Marie2

Myopathy4

Kennedy's1

Mutations1

Incurable3

Amyotrophic5

Motor neuron6

Genetic disease1

Early-onset1

Neurodegenerative diseases1

Supportive care2

Progressive5

Treatments2

Complications2

Syndrome1

Abnormalities1

Neuropathy2

Rare7