Spinal muscular atrophy (patient information)

Jump to: navigation, search

Spinal Muscular Atrophy Microchapters

Home

Patient Info

Overview

Epidemiology and Demographics

Risk Factors

Screening

Other forms

Molecular Biology

Genetics

Types

Diagnosis

Diagnosis

Full Differential Diagnosis

Symptom

Physical Examination

Electrolyte & Biomarker Studies

Electrocardiogram

Chest X Ray

MRI and CT

Echocardiography or Ultrasound

Other Imaging Findings

Pathology

Other Diagnostic Studies

Treatment

Outcome measures

Therapeutics development

Indications For Surgery

Research

Pre-Operative Assessment

Post-Operative Assessment

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Spinal muscular atrophy (patient information) Resources

Most recent articles on Spinal muscular atrophy (patient information)

Most cited articles on Spinal muscular atrophy (patient information)

Review articles on Spinal muscular atrophy (patient information)

Review articles on Spinal muscular atrophy (patient information)

CME Programs on Spinal muscular atrophy (patient information)

Powerpoint slides on Spinal muscular atrophy (patient information)

Images of Spinal muscular atrophy (patient information)

Ongoing Trials on Spinal muscular atrophy (patient information) at Clinical Trials.gov

US National Guidelines Clearinghouse on Spinal muscular atrophy (patient information)

NICE Guidance on Spinal muscular atrophy (patient information)

FDA on Spinal muscular atrophy (patient information)

CDC on Spinal muscular atrophy (patient information)

Spinal muscular atrophy (patient information) in the news

Blogs on Spinal muscular atrophy (patient information)

Directions to Hospitals Treating Spinal muscular atrophy (patient information)

Risk calculators and risk factors for Spinal muscular atrophy (patient information)

For the WikiDoc page for this topic, click here

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness and eventually decreasing the life span.

What are the symptoms of Spinal muscular atrophy?

Infants with SMA type I (the most severe form of SMA) are born with very decreased muscle tone, weak muscles, and feeding and breathing problems. With SMA type III (the mildest form), symptoms may not appear until the second year of life.

Often, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness gets worse over time and will eventually become severe.

Symptoms in an infant:

  • Breathing difficulty
  • Feeding difficulty
  • Floppy infant (poor muscle tone)
  • Lack of head control
  • Little spontaneous movement
  • Progressive weakness (older infant to toddler)
  • Very weak infant

Symptoms in a child:

  • Frequent, increasingly severe respiratory infections
  • Nasal speech
  • Worsening posture

What causes Spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease. Most of the time, a person must get the defective gene from both parents to be affected. Approximately, 4 out of every 100,000 people have the condition.

The most severe form is SMA type I, also called Werdnig-Hoffman disease. Infants with SMA type II have less severe symptoms during early infancy, but they become progressively weaker with time. SMA type III is the least severe form of the disease.

Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.

A family history of spinal muscular atrophy is a risk factor for all types of the disorder.

Possible Complications?

  • Aspiration
  • Contractions of muscles and tendons
  • Respiratory infections
  • Scoliosis

Diagnosis

The health care provider will take a careful history and perform a brain/nervous system (neurologic) examination to find out if there is:

  • A family history of neuromuscular disease
  • Floppy (flaccid) muscles
  • No deep tendon reflexes
  • Twitches (muscle fasciculation) of tongue muscle

Tests:

  • CPK levels
  • DNA testing to confirm diagnosis
  • Electromyography
  • MRI of the spine
  • Muscle biopsy

Treatment options

There is no treatment for the progressive weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system because affected people have difficulty protecting themselves from choking. Breathing complications are common.

Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine (scoliosis). Bracing may be necessary.

When to Contact a Medical Professional?

Call your health care provider if your child:

  • Appears weak
  • Develops any other symptoms of spinal muscular atrophy
  • Has difficulty feeding

Breathing difficulty can rapidly become an emergency condition.

Outlook (Prognosis)

The lifespan in SMA type I is seldom longer than 2 - 3 years. Survival time with type II is longer, but the disease kills most of those affected while they are still children. Children with type III disease may survive into early adulthood. However, people with all forms of the disease have worsening weakness and debility.

Prevention

Genetic counseling is recommended for prospective parents with a family history of spinal muscular atrophy.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm

da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi



Linked-in.jpg