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Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy


Presentation

  • The overall clinical presentation was consistent with motor neurone disease. Cerebrospinal fluid analysis revealed mild pleocytosis and increased protein concentration.[ncbi.nlm.nih.gov]
  • A patient presenting with PMA with rapid clinical evolution likely has the pathology and pathophysiology of ALS whether or not upper motor neuron signs evolve.[ncbi.nlm.nih.gov]
  • Seven other patients presenting with a PMA syndrome developed upper motor neuron signs during a one-year period of observation and were excluded from the study. The rate of progression was variable.[ncbi.nlm.nih.gov]
  • We present the electrophysiologic data at baseline of 37 patients who were included in our prospective study on sporadic adult-onset progressive muscular atrophy (PMA).[ncbi.nlm.nih.gov]
  • High titers of anti-GM1 IgM antibodies were present in 43 % of MMN patients and 7 % of PMA patients.[ncbi.nlm.nih.gov]
Vertical Gaze Palsy
  • Abstract A 36 year old man with a history of testicular germ cell tumour presented six months after bilateral orchidectomy with progressive amnesia, irritability, vertical gaze palsy, and generalised seizures.[ncbi.nlm.nih.gov]
Muscular Atrophy
  • ), [7] spinal muscular atrophy (SMA), [7] Aran–Duchenne disease, [6] [7] Duchenne–Aran disease, [6] Aran–Duchenne muscular atrophy, [7] and Duchenne–Aran muscular atrophy.[en.wikipedia.org]
  • […] tracts Applies To Duchenne-Aran muscular atrophy Progressive muscular atrophy (pure) ICD-9-CM Volume 2 Index entries containing back-references to 335.21 :[icd9data.com]
  • In particular, there was no serological evidence to suggest an association between persistent infection with any poliovirus type and amyotrophic lateral sclerosis or late-onset postpoliomyelitis progressive muscular atrophy.[ncbi.nlm.nih.gov]
  • The role of centromeric SMN copy (SMN2) has been postulated in progressive muscular atrophy (PMA). The aim of this study was to analyse the SMN1 and SMN2 copy number variations in patients with PMA.[ncbi.nlm.nih.gov]
  • OBJECTIVE: To investigate the natural history and prognostic factors in patients with nonhereditary, adult-onset progressive muscular atrophy. DESIGN: Inception cohort conducted for 18 months.[ncbi.nlm.nih.gov]
Amnesia
  • Abstract A 36 year old man with a history of testicular germ cell tumour presented six months after bilateral orchidectomy with progressive amnesia, irritability, vertical gaze palsy, and generalised seizures.[ncbi.nlm.nih.gov]
Polyradiculoneuropathy
  • Van den Bergh PYK, Pieret F (2004) Electrodiagnostic criteria for acute and chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 29:565–574 PubMed CrossRef Google Scholar 40.[doi.org]

Treatment

  • Offers practical, clinically relevant material for the diagnosis and treatment of musculoskeletal conditions.[books.google.com]
  • Review decision on the use of Riluzole for the treatment of motor neurone disease.[gpnotebook.co.uk]
  • The patient improved clinically and symptom progression ceased after initiation of treatment. There was complete resolution of the abnormal brain MRI lesions; however, the cervical spinal cord MRI lesion and muscular atrophy remained unchanged.[ncbi.nlm.nih.gov]
  • Presence of monoclonal gammopathy may indicate specific pathogenic pathways and may facilitate the development of novel treatment strategies.[ncbi.nlm.nih.gov]
  • After the diagnosis is made the doctor will discus treatment options with the patient. The actual treatment that is effective in stopping the deterioration of the nerve is still unknown.[ic.steadyhealth.com]

Prognosis

  • The distinction is important because PMA is associated with a better prognosis than classic ALS.[en.wikipedia.org]
  • Axial onset, however, predicts the early onset of respiratory failure, and a poor prognosis.[ncbi.nlm.nih.gov]
  • Patients with a low VC at baseline and a sharp decline of VC during the first 6 months have an especially poor prognosis.[ncbi.nlm.nih.gov]
  • The prognosis for this disorder is almost never good as the patient does not live form more than a several years after he or she is diagnosed with it.[ic.steadyhealth.com]
  • Prognosis .—This is unfavorable as to cure, though in rare cases the progress of the atrophy is arrested. Treatment .—Medication has but little effect upon the progress of the disease.[henriettes-herb.com]

Etiology

  • The weight of available evidence concerning its etiology, most recently reviewed by England and Denny-Brown, 1 is in favor of an affection of the spinal cord and of peripheral nerves being the primary process, the muscular changes being secondary; but[jamanetwork.com]
  • In addition, the patient developed progressive muscular atrophy of unknown etiology at the beginning of the third decade, and is bedridden at the present time.[jlc.jst.go.jp]

Epidemiology

  • 3] [4] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • 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[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • A patient presenting with PMA with rapid clinical evolution likely has the pathology and pathophysiology of ALS whether or not upper motor neuron signs evolve.[ncbi.nlm.nih.gov]
  • To further investigate the pathophysiology of MMN and PMA we determined concentrations of 16 mainly B-cell associated inflammatory markers in serum from 25 patients with MMN, 55 patients with PMA, 25 patients with amyotrophic lateral sclerosis (ALS) and[ncbi.nlm.nih.gov]
  • References: [5] [3] [6] Pathophysiology The dystrophin protein anchors the cytoskeleton of a muscular cell to the extracellular matrix by connecting cytoskeletal actin filaments to membrane-bound dystroglycan that is, in turn, connected to extracellular[amboss.com]
  • Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies. Trends Neurosci 2014;37:433-42. Brooks BR, Miller RG, Swash M, Munsat TL.[acnr.co.uk]
  • Pathophysiology Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers.[patient.info]

Prevention

  • Discusses physical agents and therapeutic exercise in the prevention, diagnosis, treatment and rehabilitation of disorders that produce pain, impairment, and disability.[books.google.com]
  • Improve Your Chances by Hiring a Disability Attorney If you've been denied benefits for muscular atrophy that prevents you from working, an experienced disability attorney can help you navigate the confusing disability appeals process.[disabilitysecrets.com]
  • This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Find out more about the register. Page last reviewed: 12/06/2017 Next review due: 12/06/2020[nhs.uk]
  • There is currently no way to prevent or reverse muscular dystrophy, but different kinds of therapy and drug treatment can improve a person's quality of life and delay the progression of symptoms.[medicalnewstoday.com]
  • If a breathing machine is needed, a tube may be placed into the windpipe (called a tracheostomy ). treatments to help kids cough and clear mucus, which can help prevent infections proper nutrition.[kidshealth.org]

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