Symptoma

Muscular Atrophy

Muscle Atrophy

Those mutations, not described previously, were characteristic of patients presenting a severe phenotype. The most frequent missense mutation - p.Thr274Ile, was identified in 9 patients presenting a rather mild phenotype. [ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    METHODS: We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. [ncbi.nlm.nih.gov]

  • Intermittent Claudication

    Synonym(s): intermittent claudication Charcot triad - (1) in multiple (disseminated) sclerosis, the three symptoms: nystagmus, tremor, and scanning speech; - (2) combination of jaundice, fever, and upper abdominal pain that occurs as a result of cholangitis [medical-dictionary.thefreedictionary.com]

  • Failure to Thrive

    While intellectual development remains normal, muscle weakness often leads to respiratory failure and generalized failure to thrive. There are three types of SMA, each with varying degrees of severity and limited treatment options. [globalgenes.org]

    Failure to thrive. If your child has SMA, you might look for symptoms such as: Delays in gross motor development, such as walking—or the loss of skills already mastered. Frequent respiratory infections that get worse with each infection. [gillettechildrens.org]

    Surgical closure of the OSASD will be considered in our patient, during infancy, if the auricular arrhythmia recurred or if other indications of surgery occurred such as failure to thrive, pulmonary hypertension or recurrent respiratory infections (8) [latunisiemedicale.com]

  • Myopathy

    CsA-induced myopathy with muscular atrophy is rare and serious, which can be identified according to pathological characteristics. [ncbi.nlm.nih.gov]

    Differential diagnosis Differential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms). [orpha.net]

    Loss of muscle not due to atrophy or sarcopenia is indicative of diseases that result in structural defects of muscles (muscular dystrophy) or autoimmune responses that degrade muscle structure (myopathies). [courses.lumenlearning.com]

    Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies. Muscle Nerve. 1989 Oct. 12(10):849-55. [Medline]. Schwennicke A, Bargfrede M, Reimers CD. [medscape.com]

  • Psychomotor Regression

    Less frequent symptoms were hearing loss, seizures and psychomotor regression. Results from clinical chemistry, brain imaging and muscle biopsy were unspecific and inconsistent. [ncbi.nlm.nih.gov]

Treatment is simple, effective, and should be instituted early. [ncbi.nlm.nih.gov]

The expensive cost of therapies will restrict the adoption of treatment for many patients, which in turn will act as a restraint for the Spinal Muscular Atrophy Treatment Market revenue. [globenewswire.com]

We are at the forefront of developing and validating new treatment approaches, such as Spinraza, the only treatment available for spinal muscular atrophy. [stanfordhealthcare.org]

We have a large program at Children’s National both for treatment and for close monitoring and systematic clinical follow up pre- and post- initiation of treatment. [childrensnational.org]

Prognosis The prognosis is poor for babies with SMA Type I. Most die within the first two years. [ninds.nih.gov]

prognosis of these patients 7,8. [radiopaedia.org]

Prognosis The prognosis depends on the severity of the disease, which generally correlates with the age of onset: earlier-onset forms are generally associated with a poor prognosis, whereas life expectancy may be close to normal in later-onset forms. [orpha.net]

Prognosis The prognosis for spinal muscular atrophy is variable. Life expectancy is dependent on the degree of respiratory impairment present. [healthofchildren.com]

The etiology is unknown, but cervical hyperflexion has been hypothesized. [ncbi.nlm.nih.gov]

Etiology Around 95% of cases of SMA are caused by homozygous deletions (either of exon 7, or of exons 7 and 8) in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein. [orpha.net]

Summary Epidemiology Prevalence is estimated at around 1/30,000. [orpha.net]

Epidemiology of the post-polio syndrome. Am J Epidemiol. 1992 Oct 1. 136(7):769-86. [Medline]. Ahlstrom G, Gunnarsson LG, Leissner P, Sjoden PO. Epidemiology of neuromuscular diseases, including the postpolio sequelae, in a Swedish county. [medscape.com]

The declining ALSFRS-R curve, epidemiological data, and neuropsychological tests were evaluated.Results: Among 331 motor neuron disease (MND) patients, 227 were finally diagnosed as sporadic ALS. [repository.hanyang.ac.kr]

SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13.[9] Epidemiology The estimated incidence is between 1 in 6,000 and 1 in 10,000 live births and the carrier frequency is [patient.info]

Chronic childhood spinal muscular atrophy in Germany (West-Thuringen): an epidemiological study. Hum Genet. 1994 ; 93 (3): 344 – 346 Dubowitz V. Disorders of the lower motor neurone: the spinal muscular atrophies. In: Muscle Disorders in Childhood. [pediatrics.aappublications.org]

"Cachexia: pathophysiology and clinical relevance". The American Journal of Clinical Nutrition. 83 (4): 735–43. doi:10.1093/ajcn/83.4.735. PMID 16600922. a b Peterson SJ, Mozer M (February 2017). [en.wikipedia.org]

Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. [ninds.nih.gov]

Cyclosporine A (CsA) is a potent immunosuppressive agent originally used to prevent rejection after organ transplantation but now more frequently used for treatment of refractory autoimmune diseases. [ncbi.nlm.nih.gov]

Standing programs for children who can't walk are used to maintain muscle flexibility and length, prevent contractures, promote musculoskeletal development, and prevent bone-mineral density loss. [moveforwardpt.com]

SMA cannot be prevented, but prospective parents can request genetic testing if they may be carriers. Types There are different types of SMA. [medicalnewstoday.com]

Scientists hope to characterize the genes, study gene function and disease course, and find ways to prevent, treat, and, ultimately, cure these diseases. [christopherreeve.org]