**12.3.3 Treatment of complication**

#### **a. Respiratory complications**

Respiratory impairment is common in MND and may develop because of respiratory muscle weakness, impaired bulbar function causing aspiration or obstructive sleep apnea, or defects in central control. Dyspnea may be due to infection, pulmonary embolus, or airway obstruction from mucous plug or inhaled pharyngeal contents. (Howard and Wiles,1989).

Symptoms of respiratory insufficiency may be subtle and develop insidiously. Patients may report dyspnea, orthopnea, sleep fragmentation due to hypoventilation, morning headaches, daytime somnolence and fatigue, poor concentration/memory and nocturia. Others may be asymptomatic. Respiratory muscle weakness is an in dependent predictor of quality of life.(Bourke, et al, 2001) and respiratory failure is the most common cause of death in ALS patients. Assessment of respiratory insufficiency includes history, physical examination, rarly morning arterial blood gas, and overnight pulse oximetry.

Nocturnal hypoventilation may present as daytime hypersomnolence, lethargy, morning headaches, poor concentration, depression, anxiety, and irritability, while obstructive sleep apnea is characterized by snoring and restless sleep with abnormal movements. (Howard and orrell 2002).

#### **Types of mechanical ventilation**

There are several types of ventilatory aids. These are broadly classified in terms of invasive versus noninvasive.

As its name suggests, invasive techniques require an endotracheal tube or more commonly a tracheostomy. For patients in advanced respiratory failure (ie, no respiratory muscle function), invasive ventilators can assume complete control of ventilation. (Simonds. 2003).

Non- invasive ventilatory aids can be divided into two groups, negative or positive pressure ventilators. Negative pressure is exerted to the chest or abdominal wall mechanically to assist inspiration. Positive pressure devices can be set to deliver variable inspiratory and expiratory pressures, triggered by spontaneous effort (Simonds. 2003).

#### **b. Management of Dysphagia**

Management of Dysphagia includes modification of food and fluid consistency, postural advice (e.g. chin tuck: flexing the neck forward on swallowing to protect the airway), and parenteral feeding.

A percutaneous endoscopic gastrostomy (PEG) placement is indicated for those who have symptomatic dysphagia or significant weight loss. (Miller, et al. 2002). Patients and their families should be suitably counseled regarding the benefits and risks of the procedure.

### **13. Conclusion**

Motor neuron disease is of the most common neurodegenerative disorders of unknown etiology, and had no specific treatment. ALS is the commonest type, and in most literatures is used as a synonym for motor neuron disease. Diagnosis is still clinical, mainly, and the investigatory tools have a definite role for diagnosis of other motor neuron mimics. Once motor neuron disease is diagnosed, the prognosis is usually bad, especially when bulbar, and respiratory complications are evident.

#### **14. References**

216 Neuromuscular Disorders

Respiratory impairment is common in MND and may develop because of respiratory muscle weakness, impaired bulbar function causing aspiration or obstructive sleep apnea, or defects in central control. Dyspnea may be due to infection, pulmonary embolus, or airway obstruction from mucous plug or inhaled pharyngeal contents. (Howard and Wiles,1989). Symptoms of respiratory insufficiency may be subtle and develop insidiously. Patients may report dyspnea, orthopnea, sleep fragmentation due to hypoventilation, morning headaches, daytime somnolence and fatigue, poor concentration/memory and nocturia. Others may be asymptomatic. Respiratory muscle weakness is an in dependent predictor of quality of life.(Bourke, et al, 2001) and respiratory failure is the most common cause of death in ALS patients. Assessment of respiratory insufficiency includes history, physical examination,

Nocturnal hypoventilation may present as daytime hypersomnolence, lethargy, morning headaches, poor concentration, depression, anxiety, and irritability, while obstructive sleep apnea is characterized by snoring and restless sleep with abnormal movements. (Howard

There are several types of ventilatory aids. These are broadly classified in terms of invasive

As its name suggests, invasive techniques require an endotracheal tube or more commonly a tracheostomy. For patients in advanced respiratory failure (ie, no respiratory muscle function), invasive ventilators can assume complete control of ventilation. (Simonds. 2003). Non- invasive ventilatory aids can be divided into two groups, negative or positive pressure ventilators. Negative pressure is exerted to the chest or abdominal wall mechanically to assist inspiration. Positive pressure devices can be set to deliver variable inspiratory and

Management of Dysphagia includes modification of food and fluid consistency, postural advice (e.g. chin tuck: flexing the neck forward on swallowing to protect the airway), and

A percutaneous endoscopic gastrostomy (PEG) placement is indicated for those who have symptomatic dysphagia or significant weight loss. (Miller, et al. 2002). Patients and their families should be suitably counseled regarding the benefits and risks of the procedure.

Motor neuron disease is of the most common neurodegenerative disorders of unknown etiology, and had no specific treatment. ALS is the commonest type, and in most literatures is used as a synonym for motor neuron disease. Diagnosis is still clinical, mainly, and the investigatory tools have a definite role for diagnosis of other motor neuron mimics. Once motor neuron disease is diagnosed, the prognosis is usually bad, especially when bulbar,

rarly morning arterial blood gas, and overnight pulse oximetry.

expiratory pressures, triggered by spontaneous effort (Simonds. 2003).

**12.3.3 Treatment of complication** 

**a. Respiratory complications**

and orrell 2002).

versus noninvasive.

**Types of mechanical ventilation** 

**b. Management of Dysphagia** 

and respiratory complications are evident.

parenteral feeding.

**13. Conclusion** 


Motor Neuron Disease 219

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**1. Introduction** 

**2. Pathogenesis** 

**1.1 Overview and incidence** 

**12** 

*1USA 2Egypt* 

Yasser Salem

**Spinal Muscular Atrophy** 

*1University of North Texas Health Science Center, 2Cairo University, Faculty of Physiotherapy,* 

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common neuromuscular disease in childhood after Duchenne

Spinal muscular atrophy is known to be genetic disorder that is inherited as an autosomal recessive disorder but some dominant or X-linked traits are reported. The pathological basis of SMA is abnormality of the large anterior horn cells in the spinal cord caused by deletion or mutation of the Survival Motor Neuron-1 (SMN1) gene located at chromosome region 5q.1 Absence of all or part of the SMN has been detected in 98% of patients with SMA18 and results in reduction of the full length protein necessary for proper function of the anterior horn cells.10,13 The decreased level of the SMN protein results in selective death of spinal motor neurons,31 with the severity of the disease being inversely proportional to the amount of the SMN in the anterior horn cells.1The severity of SMA ranges from total paralysis and

SMA is manifested by various clinical features that cause a variety of debilitating symptoms. Muscle weakness is a hallmark feature of SMA and patients with SMA are among the weakest and most hypotonic seen in any muscle clinic.13 Clinically, the disease is characterized by progressive symmetrical muscle weakness, which starts proximally and moves distally, with the proximal muscles being more affected than the distal muscles.5 Muscle weakness is associated with muscle atrophy, hypotonia, absence or marked decrease of deep tendon reflexes, fasciculation of the tongue, and tremors of the hand.5,20 Patients with SMA have normal intellectual function. Contractures and spinal deformity have been reported to be common impairments. Pulmonary infections and restrictive lung disease are

muscular dystrophy with an estimated incidence of 1 per 5,000 to 10,000 live births.4,11

need for ventilatory support to relatively mild muscle weakness.1, 32

**3. Clinical manifestation and classification** 

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