One of the types of hereditary diseases that cause spinal cord lesions in patients is Friedreich's ataxia. Friedreich's ataxia is a progressive hereditary autosomal recessive disease that causes ataxia of the lower extremities and trunk in patients. Friedreich's ataxia manifests itself in late childhood. Patients with Friedreich's ataxia have:
- setting tremor (intentional tremor)
- awkwardness in the hands
- speech disorder (dysarthria)
Often in patients with hereditary myelopathy, kyphoscoliosis and equine foot (pes cavus) are found. On examination, patients reveal the absence of tendon reflexes (areflexia), abnormal Babinski foot reflexes, and pronounced disturbances in vibration and musculo-articular feeling. Fragmented and mild forms of Friedreich's ataxia are also observed. They are observed along with other syndromes:
- spastic paraparesis (Strumpel-Lauren form)
- degeneration of the cerebellar cortex (cerebellar cortical degeneration) with ataxia
- olivopontocerebellar atrophy
Amyotrophic lateral sclerosis (ALS, motor neuron disease)
In the presence of symmetric spastic paraparesis, not accompanied by a sensory disorder, the patient may be suspected of amyotrophic lateral sclerosis (ALS, motor neuron disease). Amyotrophic lateral sclerosis causes movement disorders, affecting the cortico-spinal, cortico-bulbar tract together with the neurons of the anterior horns of the spinal cord. Twitching (fasciculations) of muscles visible in the patient and signs of their lack of innervation when examined by electromyography (EMG) are signs of the destruction of motor neurons in amyotrophic lateral sclerosis.
Subacute concomitant degeneration of the spinal cord with vitamin B12 deficiency
Subacute combined degeneration of the spinal cord with vitamin B12 deficiency is a type of myelopathy that causes motor and sensory disorders in patients:
- progressive muscle spasm and atactic paraparesis with polyneuropathy
- pronounced distal paresthesias in the feet and hands
Subacute concomitant degeneration of the spinal cord with vitamin B12 deficiency is a well-treatable disease.
Subacute concomitant degeneration of the spinal cord with vitamin B12 deficiency in patients should be differentiated from:
- cervical spondylosis
- degenerative myelopathies with late-onset
- symmetric multifocal (multiple) spinal cord sclerosis with late-onset
With this pathology, peripheral and optic nerves and the brain can also be affected. The diagnosis is confirmed by laboratory tests of blood plasma, which reveal a low level of vitamin B12 in the patient and a positive Schilling test. The opinions of experts about the ability of a patient to have a folate or vitamin E deficiency in the blood plasma lead to the development of a similar syndrome in him are controversial. Sometimes multiple sclerosis and B12-deficiency myelopathy can be diagnosed in the same patient at the same time.