SMA Type 1,2 & 3

Spinal muscular atrophy (SMA) type 1

 

Name: ___________________________________________________________

Date of birth: ______________________________________________________

Emergency contact: ________________________________________________

GP name: ________________________________________________________

GP contact: ______________________________________________________

If presenting at an emergency department, contact the neurology/neuromuscular team and respiratory team at: _________________________________________

as soon as possible on: _____________________________________________

SMA is a genetic condition affecting the part of the nervous system that controls voluntary muscle movement. In general, SMA affects a person’s physical abilities, such as moving, walking and breathing, but not their mental development.

Babies and children with SMA type 1 have severe muscle weakness, which can result in problems moving, eating, breathing and swallowing. These symptoms arise at birth or during the first few months of life.

The muscles of babies with SMA type 1 are weak, which makes their limbs limp and floppy. They are usually unable to raise their head or sit without support.

Respiratory

  • Breathing problems caused by weakness in the baby’s chest muscles are inevitable.
  • Signs of weakening respiratory muscles include poor sleep quality, sucking in of the chest wall muscles, and a change in lip or skin colour.
  • In some individuals, assisted ventilation is indicated, such as non-invasive ventilation. This involves a small breathing machine attached to a mask. The aim of this treatment is to make breathing more comfortable, improve daytime sleepiness and poor concentration and correct oxygen and carbon dioxide (waste gas) levels which are altered as a result of the weak breathing muscles.
  • Assisted coughing helps to clear sputum and mucus plugs and suction and physiotherapy techniques can help this. In some cases a cough machine is indicated.
  • Excess oral secretions can be treated with medication such as glycopyrronium bromide to reduce hypersalivation.
  • Breathlessness and sticky secretions can be helped with saline nebs although suction may be required if excess secretions are produced.

Chest infections

  • Low threshold for the use of antibiotics during chest infections is recommended.
  • Oxygen therapy is often needed during hospitalisation for a chest infection or to palliate symptoms. If ventilator support is being used, then oxygen therapy should be combined with the ventilator. Care should be taken to avoid the risk of raised carbon dioxide (waste gas) levels with oxygen therapy.

Anaesthetic precautions

  • In early stages of SMA, muscle cells develop certain abnormalities which can lead to dangerous reactions to muscle-relaxing drugs often used during surgery.
  • When a child with SMA must undergo surgery (for example, to correct scoliosis or to insert a gastrostomy) special precautions need to be taken. Ideally the surgery should occur in a specialist centre with staff experienced in managing these individuals.
  • After having a general anaesthetic, children must be weaned from invasive ventilator support (intubation) to non-invasive support. If a child was able to breathe by themselves prior to surgery, the aim would be to try to wean them back to their pre-op baseline.

 Recommendations and precautions

  • Immunisations should be kept up-to-date.
  • As children with SMA type 1 are at high risk of respiratory complications, it is advisable to have the RSV vaccination.

Fractures/trauma

  • Bone density is poor owing to non-ambulation. Vitamin D supplementation is recommended, and calcium as indicated.
  • Children are at risk after relatively low-impact injury. If more than two fractures have occurred, investigations for low bone density should be arranged at a specialist centre managing SMA.
  • If the child has a suspected fracture: because of poor bone density, the radiologist at A&E should use a low threshold for X-ray.

Feeding difficulties and care

Feeding supplementation occurs when children start to experience weight loss and/or an unsafe swallow.

  • Gastroesophageal reflux can occur in SMA. In children, symptoms may be subtle (weight loss, poor feeding, crying after feed or when lying down and coughing). In others it may be severe (stopping breathing with a change in skin colour – blue). Anti-reflux medication should be prescribed and investigated further if required.
  • Feeding supplementation occurs with the insertion of a nasal gastric tube.
  • In some cases, gastrostomy insertion with a nissen fundoplication is indicated to prevent the feed passing from the stomach into the oesophagus (gastroesophageal reflux).

For consensus care guidelines agreed by doctors and patient groups across the world, visit: www.treat-nmd.eu/care/sma/care-standards

 

Spinal muscular atrophy (SMA) type 2

 

Name: ___________________________________________________________

Date of birth: ______________________________________________________

Emergency contact: ________________________________________________

GP name: ________________________________________________________

GP contact: ______________________________________________________

If presenting at an emergency department, contact the neurology/neuromuscular team and respiratory team at: _________________________________________

as soon as possible on: _____________________________________________

SMA is a genetic condition affecting the part of the nervous system that controls voluntary muscle movement.

In general, SMA type 2 affects a person’s physical abilities, such as moving, walking and breathing, but does not affect their mental development. Although SMA type 2 may shorten life-expectancy, improvements in care standards mean that most people with the condition live long, fulfilling and productive lives.

People living with SMA type 2 are usually able to sit but not stand or walk unaided. They may also have the following symptoms: breathing problems, weakness in their arms and legs, twitching of the muscles in the arms, legs or tongue and scoliosis.

In some cases, contracture of the hands, feet, chest, and joints develop as the muscles atrophy.

Many children with SMA type 2 develop scoliosis as they grow.

 Respiratory

Individuals often have weak respiratory muscles, which can cause nocturnal hypoventilation (under-breathing at night) and make it difficult to cough effectively. This can make them more vulnerable to respiratory infections.

  • Signs of nocturnal hypoventilation include morning headaches, frequent turning at night, fatigue during the day, poor concentration and chest infections.
  • Treatment for this is non-invasive ventilation, involving a small breathing machine attached to a mask. The aim of this treatment is to make breathing more comfortable, improve daytime sleepiness and poor concentration and correct oxygen and carbon dioxide (waste gas) levels, which are altered as a result of the weak breathing muscles.

 Anaesthetic precautions

  • As there is a likelihood of respiratory muscle weakness, individuals with SMA type 2 undergoing surgery should have a pre-operative evaluation including lung function tests, sleep study and cough assessment.
  • In early stages of SMA, muscle cells develop certain abnormalities which can lead to dangerous reactions to muscle-relaxing drugs often used during surgery.
  • When an individual with SMA must undergo surgery (for example, to correct scoliosis or to insert a gastrostomy) special precautions need to be taken. Ideally the surgery should occur in a specialist centre with staff experienced in managing these individuals.
  • After having a general anaesthetic, individuals must be weaned from invasive ventilator support (intubation) to non-invasive support. If an individual was able to breathe by themselves prior to surgery, the aim would be to try to wean them back to their pre-op baseline.

Chest infections – general advice

  • Low threshold for the use of antibiotics is recommended.
  • Intensive physiotherapy should be carried out in conjunction with cough augmentation techniques including cough machines, with oxygen saturations of less than 95 percent on room air.
  • Oxygen therapy may be needed during hospitalisation for a chest infection. If ventilator support is being used, then oxygen therapy should be combined with the ventilator. Care should be taken to avoid the risk of raised carbon dioxide (waste gas) levels with oxygen therapy.
  • Sticky secretions can be helped with saline nebs although suction may be required if excess secretions are produced.
  • Excess oral secretions may be a problem and can be treated with medication, such as glycopyrronium bromide to reduce hypersalivation.
  • Intubation and ventilation is indicated in the presence of an acute reversible event unless there is an advance directive stating otherwise.

Recommendations and precautions

  • Immunisations should be kept up to date including the influenza and pneumococcal vaccine.
  • For children under the age of two, who have had recurrent chest infections and are at risk of intubation and ventilation, it is advisable to have the RSV vaccination.
  • Pregnancy in SMA type 2 will cause breathlessness. It is recommended to have a full respiratory assessment prior to conceiving.
  • Routine cardiac checks are advised in any individual who complains of chest pain or discomfort.

Fractures/traumas

  • Bone density is poor owing to non-ambulation. Vitamin D supplementation is recommended, and calcium as indicated.
  • Children are at risk after relatively low-impact injury. If more than two fractures have occurred, investigations for low bone density should be arranged at a specialist centre managing SMA.
  • If taken to A&E department with suspected fracture, instruct the radiologist to use a low threshold for X-ray because of poor bone density.

Feeding difficulties and care

  • A meal time of longer than 30 minutes is indicative of feeding issues and should warrant evaluation by a speech and language therapist.
  • Weight loss should be reviewed by a dietician. Simple dietary changes may be enough to help weight gain.
  • Gastroesophageal reflux can occur in SMA. Symptoms may be subtle (weight loss, poor feeding, crying after feed or when lying down and coughing). In others it may be severe (stopping breathing with a change in skin colour – blue). Anti-reflux medication should be prescribed and investigated further if required.
  • Where weight is not gained with dietary modifications or with an unsafe swallow, feeding supplementation is recommended. This can be either with the insertion of a nasal gastric tube or a more permanent feeding tube into the stomach (gastrostomy). If reflux is present, a nissen fundoplication is indicated.

For consensus care guidelines agreed by doctors and patient groups across the world, visit: www.treat-nmd.eu/care/sma/care-standards

 

Spinal muscular atrophy (SMA) type 3

 

Name: ___________________________________________________________

Date of birth: ______________________________________________________

Emergency contact: ________________________________________________

GP name: ________________________________________________________

GP contact: ______________________________________________________

If presenting at an emergency department, contact the neurology/ neuromuscular team and respiratory team at: _________________________________________

as soon as possible on: _____________________________________________

SMA is a genetic condition affecting the part of the nervous system that controls voluntary muscle movement.

In general, SMA affects a person’s physical abilities but does not affect their mental development.

SMA type 3 is the mildest form of childhood SMA.

Most children with SMA type 3 are able to stand unaided and walk, although many find walking or getting up from a sitting position difficult. Over time, the muscles will become weaker, resulting in some losing the ability to walk when they get older.

Breathing and swallowing difficulties are very rare and SMA type 3 does not usually affect life expectancy

Respiratory

In SMA type 3, individuals sometimes have weak respiratory muscles, which can cause nocturnal hypoventilation (under-breathing at night) later in life.

Signs of nocturnal hypoventilation include morning headaches, frequent turning at night, fatigue during the day, poor concentration and chest infections. This should be investigated further at a specialist centre. If required, treatment for this is non-invasive ventilation, which involves a small breathing machine attached to a mask.

The aim of this treatment is to make breathing more comfortable, improve daytime sleepiness and poor concentration and correct oxygen and carbon dioxide (waste gas) levels which are altered as a result of the weak breathing muscles.

In SMA type 3, weak respiratory muscles can make it difficult to cough effectively and there may be vulnerability to respiratory infections.

Intubation and ventilation are indicated in the presence of an acute reversible event unless there is an advance directive stating otherwise.

Chest infections – general advice

  • Low threshold for the use of antibiotics during chest infections is recommended.
  • During a chest infection, it is recommended that intensive physiotherapy be carried out in conjunction with cough augmentation techniques including cough machines. This should occur when oxygen saturations are less than 95 percent on room air.
  • Oxygen therapy may be needed during hospitalisation for a chest infection. If ventilator support is being used, then oxygen therapy should be combined with the ventilator. Care should be used to avoid the risk of raised carbon dioxide (waste gas) levels with oxygen therapy.

Anaesthetic precautions

  • As there is a likelihood of respiratory muscle weakness, individuals with SMA type 3 undergoing surgery should have a pre-operative evaluation including lung function tests, sleep study and cough assessment.
  • Where respiratory muscle weakness is present, familiarisation with ventilatory support is warranted prior to procedure in case it is required post-operatively.
  • After having a general anaesthetic, individuals must be weaned from invasive ventilator support (intubation) to non-invasive support. If an individual was able to breathe by themselves prior to surgery, the aim would be to try to wean them back to their pre-op baseline.

Recommendations and precautions

  • Immunisations should be kept up to date including the influenza and pneumococcal vaccine.
  • Pregnancy in SMA type 3 may cause breathlessness. It is recommended to have a full respiratory assessment prior to conceiving.
  • Routine cardiac checks are advised in any individual who complains of chest pain or discomfort.

Fractures/traumas

As bone density may be poor in SMA type 3, vitamin D supplementation is recommended. Further investigations for low bone density are required if there have been two or more fractures.

Feeding difficulties and care

Feeding supplementation may occur when individuals start to experience weight loss and/or an unsafe swallow.

  • A meal time of longer than 30 minutes is indicative of feeding issues and should warrant evaluation by a speech and language therapist.
  • Weight loss should also be reviewed by a dietician. Simple dietary changes may be enough to help weight gain.

For consensus care guidelines agreed by doctors and patient groups across the world, visit: www.treat-nmd.eu/care/sma/care-standards