Spinal muscular atrophy with respiratory onset proximal spinal muscular atrophy muscular atrophy spinal. Medical search. Frequent questions

This degeneration most often affects the proximal musculature before it impacts the distal. (medscape.com)
Patients with spinal muscular atrophy experience a progressive loss of motor function that usually affects the legs before it does the arms, and the proximal muscles before the distal ones. (medscape.com)
Symmetric weakness and wasting progress from proximal to distal areas and are most evident in the legs, beginning in the quadriceps and hip flexors. (msdmanuals.com)
Muscle weakness may spread from the proximal muscles to affect distal muscles . (symptoma.com)
The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body's center (distal). (medlineplus.gov)
Some neurogenic atrophies, however, may mimic some muscular dystrophies or myopathies, such as distal myopathies. (musculoskeletalkey.com)
distal spinal muscular atrophy (DSMA). (smanewstoday.com)
Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. (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)
Serum creatine kinase levels may be elevated but usually not to the extent that they are elevated in persons with muscular dystrophy. (medscape.com)
Muscular Dystrophy Campaign sponsored workshop: recommendation for respiratory care of children with SMA type II and III. (medscape.com)
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness . (symptoma.com)
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)
Background: Clinical medical management guidelines of Duchenne muscular dystrophy (DMD) emphasize prevention and early identification and treatment. (iospress.com)
B) Intermediate dystrophin staining in a patient with Becker muscular dystrophy. (medscape.com)
C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy. (medscape.com)
Progression of muscular dystrophy occurs in 5 stages. (medscape.com)
New SPINRAZA data continue to reinforce the positive results seen in clinical studies and in my own practice," said Thomas Crawford, M.D., co-director, Muscular Dystrophy Association Clinic at Johns Hopkins Medicine. (biogen.com)
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of proximal muscles. (hacettepe.edu.tr)
Muscular dystrophy refers to group of hereditary diseases that weakens the muscles associated with movements. (stgeorgeorthopaedics.com.au)
Muscular dystrophy is caused by defective genes. (stgeorgeorthopaedics.com.au)
There is no specific treatment for any form of muscular dystrophy but certain medications, physical therapy and assistive devices can slow the progress of some forms of muscular dystrophy. (stgeorgeorthopaedics.com.au)
Muscular dystrophy can occur at infancy or childhood. (stgeorgeorthopaedics.com.au)
It is the most common kind of muscular dystrophy affecting only boys, between the ages of 2 to 6. (stgeorgeorthopaedics.com.au)
A muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. (org.np)
In muscular dystrophy, abnormal genes ( mutations ) interfere with the production of proteins needed to form healthy muscle. (org.np)
There are many different kinds of muscular dystrophy. (org.np)
There's no cure for muscular dystrophy. (org.np)
The main sign of muscular dystrophy is progressive muscle weakness. (org.np)
Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. (org.np)
Signs and symptoms are similar to those of Duchenne muscular dystrophy but tend to be milder and progress more slowly. (org.np)
This is the most common form of muscular dystrophy. (org.np)
About one-third of boys with Duchenne muscular dystrophy (DMD) don't have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation). (org.np)
Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. (org.np)
Mutations in the DMD gen e cause the Duchenne and Becker forms of muscular dystrophy. (org.np)
Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy. (org.np)
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. (org.np)
When elevated CK levels are found in a blood sample, it usually means the muscle is being destroyed by some abnormal process, such as muscular dystrophy or inflammation. (org.np)
Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)
Severe cases of myotonic dystrophy will be noticeable at birth, and babies with this "congenital" form may have breathing and swallowing problems and be quite severely ill, needing respiratory support and a feeding tube. (treat-nmd.org)
Unlike some other forms of muscular dystrophy where infants may not achieve motor milestones, children with congenital myotonic dystrophy who overcome their initial breathing and feeding problems can make progress and often learn to walk, but as children they may have learning difficulties and other myotonic dystrophy symptoms. (treat-nmd.org)

Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. (medscape.com)

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)
Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
Neurodegenerative diseases of the central nervous system can affect the brain and/or spinal cord. (wikipedia.org)
Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons 1-5 . (bvsalud.org)
Muscle atrophy, caused by a progressive loss of the anterior horn cells in the spinal cord, is universal. (medscape.com)
Spinal muscular atrophies include several types of hereditary disorders characterized by skeletal muscle wasting due to progressive degeneration of anterior horn cells in the spinal cord and of motor nuclei in the brain stem. (msdmanuals.com)
Muscle weakness in spinal muscular atrophy is caused by the loss of nerve cells that transmit signals from the brain and spinal cord to the muscles. (mysmateam.com)
These nerves (called motor neurons ) are in the spinal cord and lower part of the brain. (kidshealth.org)
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. (nih.gov)
Longitudinal cavities in the spinal cord , most often in the cervical region, which may extend for multiple spinal levels. (lookformedical.com)
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord , and surrounding bony structures. (lookformedical.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)
Ascending tracts: Groups of nerve fibers in the spinal cord that transmit sensory impulses upward to the brain. (chiariproject.org)
Aseptic meningitis: Inflammation of the membranes (meninges) that cover the brain and spinal cord. (chiariproject.org)
Central canal: The opening or channel normally present through the length of the spinal cord in later fetal life and early infancy. (chiariproject.org)
Central nervous system: The part of the nervous system consisting of the brain and spinal cord, which coordinates the entire nervous system of the body. (chiariproject.org)
Cerebral spinal fluid: Fluid occupying the ventricles of the brain, subarachnoid space of the meninges, and the central canal of the spinal cord. (chiariproject.org)
lumbar) MNs from brainstem and spinal cord of mice over-expressing the human SOD1 G93A (SOD1) mutation, in comparison to wild-type (WT) mice, at four postnatal (P) ages of 8-15, 28-35, 65-75, and 120 days. (frontiersin.org)
In SOD1 mice, dendritic changes occur at pre-symptomatic ages in both XII and spinal cord lumbar MNs. (frontiersin.org)
Prominent early changes in dendritic arbors and spines occur in susceptible cranial and spinal cord MNs, but are absent in MNs resistant to loss in ALS. (frontiersin.org)
Although these studies have provided insights into individual components of the neuro-motor network at specific time points in disease pathogenesis, there remains a need to define the onset and progression of neuronal pathology at successive stages of disease in ALS in key subcortical structures receiving cortical outputs: the striatum, hippocampus ( Spalloni and Longone, 2015 ), brainstem, and spinal cord. (frontiersin.org)

There are five main types of spinal muscular atrophy. (msdmanuals.com)
There are many types of spinal muscular atrophy that are caused by changes in the same genes. (medlineplus.gov)
Mutations in the SMN1 gene cause all types of spinal muscular atrophy described above. (medlineplus.gov)

Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure. (medlineplus.gov)
Improved nutrition, replacement of muscle relax-ation is needed to confirm a suspected hearing loss is common with mammary artery grafts and bmt have been observed following thermal injury and chronic hypertension are often useful to identify children with spinal muscular atrophy ipsma malignant form of diabetes include coronary artery supplies the anterior pituitary. (albionfoundation.org)

In the early 1960s, Byers and Banker classified SMA into categories based on the severity and age of onset of the symptoms, in an effort to predict prognosis. (medscape.com)
This category is reserved for onset of symptoms during early adulthood. (medscape.com)
What Are the Signs & Symptoms of Spinal Muscular Atrophy? (kidshealth.org)
CHERISH is a fifteen-month study investigating SPINRAZA in 126 non-ambulatory patients with later-onset SMA (consistent with Type 2), including patients with the onset of signs and symptoms at greater than 6 months and an age of 2 to 12 years at screening. (mda.org)
Late onset of symptoms observedis important in patients following electric injury. (albionfoundation.org)
Acute: Having rapid onset, severe symptoms, and a short course. (chiariproject.org)

Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. (symptoma.com)
Patients generally present with slowly progressive weakness and wasting restricted to the proximal muscles . (symptoma.com)
Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. (medlineplus.gov)
They can also have breathing problems due to weakness of respiratory muscles and an abnormally bell-shaped chest that prevents the lungs from fully expanding. (medlineplus.gov)
In most types of SMA, muscle weakness affects the proximal muscles (those closest to the center of the body) and lower extremities. (mysmateam.com)
Problems with respiratory function can occur in spinal muscular atrophy because of weakness in the muscles that control breathing. (mysmateam.com)
Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). (kidshealth.org)
Because the muscles don't move, they get smaller (or atrophy). (kidshealth.org)
As a result, muscles do not get the electrical signals that normally tell them to move, resulting in muscle weakness and ultimately leading to muscle atrophy over time. (smanewstoday.com)
As the degeneration advances, the muscles gradually weaken and atrophies, losing its ability to control voluntary movements. (freedissertation.com)
Patients with inflammatory myopathies may have slow but progressive muscle weakness that begins in the proximal muscles. (stgeorgeorthopaedics.com.au)

Duchenne and Becker muscular dystrophies are caused by mutations in the same gene encoding dystrophin. (medscape.com)
The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies. (org.np)
Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies. (org.np)
In common with other muscular dystrophies, it causes muscle wasting and weakness. (treat-nmd.org)

Scoliosis in spinal muscular atrophy: review of 63 cases. (medscape.com)
Clinical features include weakness of the hip and shoulder girdle, difficulty walking , spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. (symptoma.com)
1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. (nih.gov)
Additional features of X-linked infantile spinal muscular atrophy include an unusually small chin (micrognathia), abnormal curvature of the spine (scoliosis or kyphosis), and undescended testes (cryptorchidism). (nih.gov)
Safety data involving the intrathecal administration of SPINRAZA showed the incidence and nature of the most common lumbar puncture-related adverse events were similar in children with later-onset SMA with or without scoliosis in the clinical studies. (biogen.com)

Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy , spinal muscular atrophy with lower extremity predominance , X-linked infantile spinal muscular atrophy , and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. (medlineplus.gov)
SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. (nih.gov)

Severe obstructive sleep apnea in a patient with spinal muscle atrophy. (medscape.com)
Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. (medlineplus.gov)
X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al. (nih.gov)
X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). (nih.gov)
Individuals with severe obesity may have an increased risk of cardiac insufficiency, sleep apnea, diabetes, respiratory problems and other serious conditions that can cause life-threatening complications. (rarediseases.org)
With second and third waves of the COVID-19 pandemic hitting many shores, the possibility that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) will become endemic has become much more likely. (news-medical.net)

Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. (medscape.com)
Spinal muscular atrophies usually result from autosomal recessive mutations that affect the survival motor neuron 1 ( SMN1 ) gene on the long arm of chromosome 5, most often causing a homozygous deletion of exon 7. (msdmanuals.com)

spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. (bvsalud.org)
Besides muscle weakness, respiratory 9 , orthopedic 5 , and nutritional 10-12 problems are particularly note wortley. (bvsalud.org)
Patients who develop normal walking skills prior to the onset of muscle weakness can maintain this ability until the third or fourth decade. (medscape.com)
Spinal muscular atrophy type 4 (late-onset) can be recessive, dominant, or X-linked, with adult onset (age 30 to 60 years) and slow progression of primarily proximal muscle weakness and wasting. (msdmanuals.com)
Clinical features include proximal muscle weakness , waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. (symptoma.com)
Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. (medlineplus.gov)
and respiratory muscle weakness that can be life-threatening. (medlineplus.gov)
Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. (medlineplus.gov)
Muscle weakness generally worsens over time , meaning people may lose functionality as spinal muscular atrophy progresses. (mysmateam.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)
Spinal muscular atrophy (SMA) is a rare genetic condition characterized by progressive muscle weakness and atrophy. (smanewstoday.com)
These SMA conditions also are characterized by muscle weakness and atrophy. (smanewstoday.com)
[rx] Some physical examination findings include early-onset cataracts (younger than 50 years), varying grip myotonia, proximal muscle weakness or stiffness, hearing loss, and myofascial pain. (rxharun.com)
Like the adult onset form it can cause muscle weakness and stiffness, but often it can also cause learning difficulties. (treat-nmd.org)

The disorder is often fatal in early life, frequently resulting from respiratory complications. (msdmanuals.com)
Life expectancy depends on whether respiratory complications develop. (msdmanuals.com)
Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. (org.np)

Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. (medlineplus.gov)
The degree of weakness , which parts of the body it affects, and how it impacts physical function and quality of life depend on the type of SMA a person has and age of onset. (mysmateam.com)

ALS is the most frequent adult-onset motor neuron disease. (freedissertation.com)
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative syndrome characterised mainly by the progressive loss of upper and lower motor neurons and their axons resulting in wasting, paresis and death from respiratory failure within a few years on average. (bmj.com)

These are the changes seen in chronic disorders such as ALS and can be distinguished from the early-onset childhood disorders such as SMA. (musculoskeletalkey.com)

In the other less common types of FD, onset, severity, and primary manifestations vary. (nih.gov)
The diagnosis of stupor and coma, seizures, and coma with high injury severity scores, head or spinal surgery. (albionfoundation.org)

Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. (medscape.com)
PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)

This article will cover the epigenetics and treatment of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). (wikipedia.org)

Type I , sometimes called infantile-onset SMA or Werdnig-Hoffmann disease, begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. (kidshealth.org)
These results, along with our successful trial in infantile-onset SMA, reinforce the potential of SPINRAZA to benefit a broad range of SMA patients," said Michael Ehlers, M.D., Ph.D., executive vice president, head of Research and Development at Biogen. (mda.org)
The breadth of data presented reinforces the significant and clinically meaningful efficacy of SPINRAZA on the achievement of motor milestones and measures of motor function across a broad range of individuals with spinal muscular atrophy (SMA), as well as on survival endpoints in infantile-onset SMA. (biogen.com)

When they think a child might have spinal muscular atrophy, doctors will order genetic testing to look for mutations in the SMN1 gene. (kidshealth.org)

The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). (nih.gov)

SMA patients present progressive symmetrical proximal weakness and hypotonia 1-4,6,8 , but there is no sensory abnormality 7 . (bvsalud.org)

The majority of ALS patients present with limb-onset disease (65-75%), 10 spreading along the neuraxis to affect contiguous motor neurons. (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)
Hoffmann called the syndrome spinale muskelatrophie (spinal muscular atrophy). (medscape.com)

People with spinal muscular atrophy type III typically have a normal life expectancy. (medlineplus.gov)
Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. (nih.gov)

Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital). (medlineplus.gov)
In individuals with shorter disease durations (i.e., generally younger at symptom onset), infants in ENDEAR demonstrated a lower risk of death or permanent ventilation and children in CHERISH demonstrated greater motor function improvement from baseline to 15 months compared to untreated individuals. (biogen.com)
In addition, further results from the interim analysis of the Phase 2 NURTURE study highlight the clinically meaningful efficacy of SPINRAZA on event-free survival, measures of motor function and achievement of motor milestones when administered to infants with genetically-diagnosed SMA before symptom onset. (biogen.com)
Infants and children with SMA treated with nusinersen in clinical trials: Experience of risk for respiratory or other events with repeat anesthesia/sedation for intrathecal administration. (biogen.com)
Efficacy and safety of nusinersen in genetically diagnosed infants with presymptomatic spinal muscular atrophy (SMA): Results from the second interim analysis of the ongoing, phase 2 NURTURE study. (biogen.com)

CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)

Patients with spinal muscular atrophy (SMA) should have frequent follow-up care for symptomatic control of their disease. (medscape.com)
Spinal muscular atrophy type 1 (infantile spinal muscular atrophy, or Werdnig-Hoffmann disease) is also present in utero and becomes symptomatic by about age 6 months. (msdmanuals.com)
Spinal muscular atrophy type 3 (juvenile form, or Wohlfart-Kugelberg-Welander disease) usually manifests between age 15 months and 19 years. (msdmanuals.com)
Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. (medlineplus.gov)
Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. (beds.ac.uk)
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)
Atrophy: A wasting of tissues or decrease in size of a part of the body because of disease or other influences. (chiariproject.org)
Spine loss without dendritic changes was present in striatal neurons from disease onset. (frontiersin.org)
The disease is often categorized according to age of onset. (treat-nmd.org)
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)

Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. (org.np)

Spinal muscular atrophies may involve the central nervous system and thus are not purely peripheral nervous system disorders. (msdmanuals.com)

to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
Type III SMA onset occurs in older children. (bvsalud.org)
Therefore, the aim of this study is verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. (medscape.com)
Pulmonary function assessment in patients with spinal muscular atrophy type II and type III. (medscape.com)
Training improves oxidative capacity, but not function in Spinal Muscular Atrophy Type III. (medscape.com)
Individuals with spinal muscular atrophy type II cannot stand or walk unaided. (medlineplus.gov)
The life span of individuals with spinal muscular atrophy type II varies, but many people with this condition live into their twenties or thirties. (medlineplus.gov)
Spinal muscular atrophy type IV is rare and often begins in early adulthood. (medlineplus.gov)
Spinal muscular atrophy type I is the most common type, accounting for about half of all cases. (medlineplus.gov)
Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. (nih.gov)
CAMBRIDGE, Mass. & CARLSBAD, Calif.--(BUSINESS WIRE) --Biogen (NASDAQ:BIIB) and Ionis Pharmaceuticals (NASDAQ:IONS) announced that SPINRAZATM (nusinersen), an investigational treatment for spinal muscular atrophy (SMA), met the primary endpoint at the interim analysis of CHERISH, the Phase 3 study evaluating SPINRAZA in later-onset (consistent with Type 2) SMA. (mda.org)
Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE . (lookformedical.com)

The "late effects" include conditions specified as such, or as sequelae, which may occur at any time after the onset of the causal condition. (theodora.com)

Spinal muscular atrophy (SMA) is caused by successive motor unit degeneration. (medscape.com)

One medicine, Nusinersen (or Spinraza™), is given through a spinal tap . (kidshealth.org)
Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): End of study results from the phase 3 CHERISH. (biogen.com)

Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been. (symptoma.com)

Anatomy13

Organisms1

Diseases30

Chemicals and Drugs14

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Psychiatry and Psychology1

Phenomena and Processes16

Disciplines and Occupations2

Information Science2

Health Care2

Distal8

Dystrophy35

Kugelberg Welander Spinal Muscula1

Cord22

Types of spinal muscula3

Children with spinal muscula2

Symptoms6

Muscles11

Dystrophies4

Scoliosis5

Lower extremity2

Severe6

Autosomal recessive2

Muscle14

Complications3

Affects2

Adult onset2

Early-onset1

Severity2

Genes3

Amyotrophic lateral s1

Infantile onset3

Mutations1

Progressive myocloni1

Hypotonia1

Motor neurons1

Syndrome2

Typically2

Infants5

Diseases1

Disease10

Gait1

Peripheral1

Type13

Occur1

Degeneration1

Nusinersen2

Abnormalities1