Motor neurone disease

The various forms of adult motor neurone disease are classified according to the distribution of the initial clinical features

Pathology
The clinical findings are the consequence of motor neurone loss in the cortex, brain stem and spinal cord, along with degeneration in the corticobulbar and corticospinal pathways.

In progressive muscular atrophy Weakness and wasting of the small hand muscles begin asymmetrically then extend more uniformly over several years. Reflexes are relatively preserved, despite the wasting, and fasciculation is prominent. Initial involvement of the lower limbs is less common, presenting usually with foot drop or wasting of one or both thighs.

The spinal muscular atrophies (SMAs)

They differ in age at onset and severity of symptoms.
SMA type I (severe form): Onset is from birth to 6 months. Children are never able to sit without support, and death usually occurs before the age of 2 years. SMA type II (intermediate form): Onset is before the age of 18 months. Children are unable to stand or walk without aid, and death usually occurs after the age of 2 years. SMA type III (mild form): Onset is after the age of 18 months. Patients have the ability to stand and walk, and death occurs in adulthood.

Primary lateral sclerosis is rare. Here there is a slowly progressive spastic paraparesis with or without upper limb involvement and without motor neurone loss. In amyotrophic lateral sclerosis, there is a combination of spasticity and hyperreflexia in the lower limbs with weakness, wasting and fasciculation in the upper limbs. Later in the illness truncal and oropharyngeal muscles are affected.

Progressive bulbar palsy presents with dysphagia and dysarthria. The facial muscles atrophy, speech becomes slurred and aspiration is likely. Weakness and wasting of the tongue become conspicuous, accompanied by fasciculation and slowing of movement. Exclusion criteria include sensory impairment, sphincter disorders and ocular involvement.

Lab studies
EMG studies are of considerable value in diagnosis. A combination of fibrillation and fasciculation potentials with large, prolonged motor unit potentials is particularly characteristic

Muscle biopsy shows the changes of chronic denervation with grouped fibre atrophy and fibretype grouping without evidence of inflammatory cell infiltration

Normal muscle contain random checkerboardlike appearance

Fibre-type grouping

Treatment:
Medical care in ALS is primarily palliative. Patients should be involved in regular exercise and a physical therapy program. Medications such as baclofen and tizanidine may be used to relieve severe spasticity. Riluzole, a glutamate inhibitor, is an FDAapproved medication for prolonging tracheostomy-free survival.

Syringomyelia
In syringomyelia cystic cavitation of the spinal cord occurs, most prominently in the cervical region sometimes in association with cystic cavitation in the brain stem (syringobulbia).

Causes:
The condition closely coexists with a number of developmental anomalies close to the cervicocranial junction, including abnormal fusion of the cervical vertebrae, Type 1 Chiari malformation. Syringomyelia may also appear in relationship to an intramedullary tumour, and as a post-traumatic phenomenon.

Clinical features
There is prominent dissociated anaesthesia in the cervical dermatomes, often leading to injuries to the hands.

Later, touch and proprioceptive function may be affected. The motor involvement includes weakness then wasting in upper limb muscles and a spastic paraparesis.

The upper limb reflexes become depressed, the lower limb reflexes exaggerated. Autonomic dysfunction occurs and includes a Horners syndrome, altered sweating of the face and arms, and sphincter disturbance. Kyphoscoliosis is sometimes found.

Investigation
CT myelography can demonstrate expanded cord and delayed opacification of the syringomyelic cavity

MRI is the procedure of choice,

being more accurate in delineating the extent of cavitation and the cerebellar herniation
Cavity

Treatment
Various forms of surgical treatment have been used including: foramen magnum decompression and syringoperitoneal or subarachnoid shunting.