Medizinonline Medizinonline
  • News
    • News
    • Market & Medicine
  • Patients
    • Disease patterns
    • Diagnostics
    • Therapy
  • Partner Content
    • Dermatology
      • Atopic dermatitis and psoriasis news
      • Dermatology News
    • Diabetes
      • Dia-Month Club – Type 2 Diabetes
      • Diabetes in Motion
      • Diabetes Podcasts
    • Gastroenterology
      • IBD matters
      • Forum Gastroenterology
      • Ozanimod: ulcerative colitis
      • Reflux Update
    • Immunology
      • Primary immunodeficiency – exchange of experience
    • Vaccinate
      • Herpes zoster
    • Infektiologie
    • Neurology
      • EXPERT ULTRASONIC: Introduction to ultrasound-guided injection
      • MS News
      • MS Therapy in Transition
    • Oncology
      • Swiss Oncology in motion
    • Orthopedics
      • Osteoporosis in motion
    • Phytotherapie
    • Practice Management
      • Aargau Cantonal Bank
      • Claraspital
    • Psychiatry
      • Geriatric Psychiatry
    • Rheumatology
  • Departments
    • Allergology and clinical immunology
    • General Internal Medicine
    • Anesthesiology
    • Angiology
    • Surgery
    • Dermatology and venereology
    • Endocrinology and Diabetology
    • Nutrition
    • Gastroenterology and Hepatology
    • Genetics
    • Geriatrics
    • Gynecology
    • Hematology
    • Infectiology
    • Cardiology
    • Nephrology
    • Neurology
    • Emergency and intensive care medicine
    • Nuclear Medicine
    • Oncology
    • Ophthalmology
    • ORL
    • Orthopedics
    • Pediatrics
    • Pharmacology and toxicology
    • Pharmaceutical medicine
    • Phlebology
    • Physical medicine and rehabilitation
    • Pneumology
    • Prevention and health care
    • Psychiatry and psychotherapy
    • Radiology
    • Forensic Medicine
    • Rheumatology
    • Sports Medicine
    • Traumatology and trauma surgery
    • Tropical and travel medicine
    • Urology
    • Dentistry
  • CME & Congresses
    • CME continuing education
    • Congress Reports
    • Congress calendar
  • Practice
    • Noctimed
    • Practice Management
    • Jobs
    • Interviews
  • Log In
  • Register
  • My account
  • Contact
  • English
    • Deutsch
    • Français
    • Italiano
    • Português
    • Español
  • Publications
  • Contact
  • Deutsch
  • English
  • Français
  • Italiano
  • Português
  • Español
Subscribe
Medizinonline Medizinonline
Medizinonline Medizinonline
  • News
    • News
    • Market & Medicine
  • Patienten
    • Krankheitsbilder
    • Diagnostik
    • Therapie
  • Partner Content
    • Dermatology
      • Atopic dermatitis and psoriasis news
      • Dermatology News
    • Diabetes
      • Dia-Month Club – Type 2 Diabetes
      • Diabetes in Motion
      • Diabetes Podcasts
    • Gastroenterology
      • IBD matters
      • Forum Gastroenterology
      • Ozanimod: ulcerative colitis
      • Reflux Update
    • Immunology
      • Primary immunodeficiency – exchange of experience
    • Vaccinate
      • Herpes zoster
    • Infektiologie
    • Neurology
      • EXPERT ULTRASONIC: Introduction to ultrasound-guided injection
      • MS News
      • MS Therapy in Transition
    • Oncology
      • Swiss Oncology in motion
    • Orthopedics
      • Osteoporosis in motion
    • Phytotherapie
    • Practice Management
      • Aargau Cantonal Bank
      • Claraspital
    • Psychiatry
      • Geriatric Psychiatry
    • Rheumatology
  • Departments
    • Fachbereiche 1-13
      • Allergology and clinical immunology
      • General Internal Medicine
      • Anesthesiology
      • Angiology
      • Surgery
      • Dermatology and venereology
      • Endocrinology and Diabetology
      • Nutrition
      • Gastroenterology and Hepatology
      • Genetics
      • Geriatrics
      • Gynecology
      • Hematology
    • Fachbereiche 14-26
      • Infectiology
      • Cardiology
      • Nephrology
      • Neurology
      • Emergency and intensive care medicine
      • Nuclear Medicine
      • Oncology
      • Ophthalmology
      • ORL
      • Orthopedics
      • Pediatrics
      • Pharmacology and toxicology
      • Pharmaceutical medicine
    • Fachbereiche 26-38
      • Phlebology
      • Physical medicine and rehabilitation
      • Phytotherapy
      • Pneumology
      • Prevention and health care
      • Psychiatry and psychotherapy
      • Radiology
      • Forensic Medicine
      • Rheumatology
      • Sports Medicine
      • Traumatology and trauma surgery
      • Tropical and travel medicine
      • Urology
      • Dentistry
  • CME & Congresses
    • CME continuing education
    • Congress Reports
    • Congress calendar
  • Practice
    • Noctimed
    • Practice Management
    • Jobs
    • Interviews
Login

Sie haben noch keinen Account? Registrieren

  • Spinal muscular atrophy

SMA in adults: the road to personalized treatment

    • Congress Reports
    • Education
    • Neurology
    • RX
  • 2 minute read

Adults with spinal muscular atrophy form a clinically and genetically very heterogeneous group. A common feature is the progressive loss of motor anterior horn cells in the spinal cord, resulting in impaired impulse transmission. Muscle atrophy, muscle hypotonia and paresis may result. Therefore, the therapy should individually consider the disease activity and needs of the patient.

Spinal muscular atrophy (SMA) is a rare, predominantly autosomal recessive muscle disease in which motor anterior horn cells and motor cranial nerve nuclei degenerate. The cause is usually a defect in the SMN1 gene. The resulting lack of functional SMN protein can be partially compensated by the SMN2 gene. Therefore, the more SMN2 copies are present, the later the onset of SMA and the more favorable the course. Patients with late-onset SMA (types II-IV) often have a normal life expectancy. Basically, however, the disease forms a very heterogeneous group with numerous, even very rare forms. They are differentiated according to distribution pattern, onset of disease, severity, and pattern of inheritance. However, the vast majority (90%) is proximal SMA, which is characterized by the onset of muscle weakness in proximal muscle groups (types I-III). Type IV is a special form of the non-proximal type with an onset of disease >30 years (Table 1).

 

 

Individual treatment goals

Because the group of adult patients with SMA is so diverse, treatment goals cannot be lumped together. For one person, it is important to maintain walking independence and delay the time of needing to use a wheelchair as much as possible. In other patients, however, the focus should be on the function of the upper extremities (tab. 2) . The SMA patients therefore receive physiotherapy, supportive mechanical ventilation if desired, and orthopedic measures to compensate for the curved spine. Also, care should be taken to ensure adequate caloric intake, so that the muscles do not break down even faster. Basically, treatment management aims to strengthen endurance and resistance, maintain bone health, prevent fractures, keep body weight constant, and monitor breathing.

 

 

No longer supportive-palliative treatment alone

The first disease-modifying therapy is now available. Since the pivotal studies were conducted in children, an observational study was now conducted to look more closely at the effect in adults. The results suggest that the antisense oligonucleotide nusinersen can also significantly improve motor function in adults with SMA. The change in the Hammersmith Functional Motor Scale Expanded (HFMSE) was assessed. Compared to baseline, this was significantly increased.

Source: EAN Virtual Congress 2020

 

InFo NEUROLOGY & PSYCHIATRY 2020; 18(4): 36 (published 6/29/20, ahead of print).

Autoren
  • Leoni Burggraf
Publikation
  • InFo NEUROLOGIE & PSYCHIATRIE
Related Topics
  • Pulse forwarding
  • SMA
  • Spinal muscular atrophy
Previous Article
  • Atrial fibrillation

Early rhythm control aims for better outcomes

  • Cardiology
  • Congress Reports
  • RX
  • Studies
View Post
Next Article
  • Migraine

Avert headaches in advance

  • Congress Reports
  • Education
  • Neurology
  • RX
  • Studies
View Post
You May Also Like
View Post
  • 8 min
  • Psoriasis and PsA

Biologics, oral peptide and trivalent nanobody – current results and trends

    • Allergology and clinical immunology
    • Congress Reports
    • Dermatology and venereology
    • Rheumatology
    • RX
    • Studies
View Post
  • 5 min
  • Cancer in Europe: facts and analysis

New Health Policy Report published

    • General Internal Medicine
    • Oncology
    • Practice Management
    • Prevention and health care
    • RX
    • Studies
View Post
  • 4 min
  • Gastrointestinal complaints

PPI regulation under the microscope

    • Education
    • Gastroenterology and Hepatology
    • General Internal Medicine
    • Pharmacology and toxicology
    • RX
    • Studies
View Post
  • 4 min
  • Study report

Digital patient education for atrial fibrillation shows measurable effects

    • Cardiology
    • Education
    • General Internal Medicine
    • RX
    • Studies
View Post
  • 23 min
  • Important basics and studies on cancer and the psyche

Interplay between cancer and mental illness

    • CME continuing education
    • Oncology
    • Psychiatry and psychotherapy
    • RX
    • Studies
View Post
  • 16 min
  • IBDmatters - Synergy effects for IBD pathways

How combination therapies lead to better treatment results

    • CME continuing education
    • Gastroenterology and Hepatology
    • General Internal Medicine
    • Genetics
    • RX
    • Studies
    • Training with partner
View Post
  • 3 min
  • "Patients W.A.I.T. Indicator"

Access to new drugs is becoming increasingly difficult

    • Oncology
    • Pharmacology and toxicology
    • Practice Management
    • RX
    • Studies
View Post
  • 5 min
  • Cardiometabolic research

The liver-heart axis in the pathogenesis of cardiometabolic diseases

    • Cardiology
    • Education
    • Gastroenterology and Hepatology
    • RX
    • Studies
Top Partner Content
  • Forum Gastroenterology

    Zum Thema
  • Herpes zoster

    Zum Thema
Top CME content
  • 1
    How combination therapies lead to better treatment results
  • 2
    Interplay between cancer and mental illness
  • 3
    PH and lung diseases
  • 4
    Treatment of comorbidities in older people
  • 5
    Multidisciplinary teams in oncology

Newsletter

Sign up and stay up to date

Subscribe
Medizinonline
  • Contact
  • General terms and conditions
  • Imprint

Input your search keywords and press Enter.