Amyotrophic lateral sclerosis ALS , a rapidly progressive, invariably fatal disease, involves mixed upper and lower motor neurons in different spinal cord regions. Patients with bulbar onset progress more rapidly than patients with limb onset or with a lower motor neuron presentation. Recent descriptions of regional variants suggest some patients have ALS isolated to a single spinal region for many years, including brachial amyotrophic diplegia , leg amyotrophic diplegia , and isolated bulbar palsy. Clearer definitions of regional variants will have implications for prognosis, understanding the pathophysiology of ALS, identifying genetic factors related to slower disease progression, and future planning of clinical trials. All rights reserved.
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Although amyotrophic lateral sclerosis and progressive spinal muscular atrophy have been recognized to occur in association with human immunodeficiency virus infection, to our knowledge, brachial amyotrophic diplegia, a form of segmental motor neuron disease, has not been previously reported. Brachial amyotrophic diplegia results in severe lower motor neuron weakness and atrophy of the upper extremities in the absence of bulbar or lower extremity involvement, pyramidal features, bowel and bladder incontinence, and sensory loss.
We describe a human immunodeficiency virus—seropositive man without severe immunosuppression or prior AIDS-defining illnesses who had brachial amyotrophic diplegia. This disorder may represent one end of a spectrum of motor neuron diseases occurring with this retrovirus infection. Motor neuron disease associated with human immunodeficiency virus HIV infection was first reported in , 1 4 years after the initial description of AIDS. This year-old man was first aware of a slowly progressive weakness of the right shoulder in June when he noted difficulty lifting heavy objects above his head with his right arm.
The symptoms in his right arm progressed, and by June , a similar weakness had developed in the left shoulder. Weakness and wasting were progressive in both upper extremities and in his chest muscles in the ensuing months. He denied speech or swallowing difficulties, leg weakness, sphincter disturbances, fasciculations, or stiffness.
He reported rare mild cramps in his right medial plantar muscles. In February , laboratory testing revealed that he was HIV seropositive by enzyme-linked immunosorbent assay and Western blot analysis.
His medical history was remarkable for diabetes mellitus diagnosed at the age of 14 years, which had been complicated by diabetic retinopathy requiring a right eye vitrectomy in , diabetic peripheral neuropathy, and mild diabetic nephropathy with nonnephrotic proteinuria.
The development of severe weakness of his upper extremities ultimately precluded self-injection of insulin, and an insulin pump was inserted. There was no family history of neuromuscular disorders. A physical examination performed in April showed a slender man, weighing His cognition, language, and speech were normal.
The result of a cranial nerve examination was normal. There was dramatic wasting of the muscles of the shoulder girdle and upper extremity and to a lesser extent the muscles of the forearms, hands, chest, and thorax Figure.
The scapulae were winged. Coarse fasciculations were observed in multiple muscles in the upper extremity and over the chest. His abdominal muscles were preserved. No spasticity was evident. Upper extremity strength was graded as trace in both deltoids, 2 of 5 in the right biceps and brachioradialis, 3 of 5 in the left biceps and brachioradialis, 4 of 5 in both triceps, and 4 of 5 at the wrist extensors and flexors, although the extensors were weaker. His interossei and other intrinsic hand muscles were mildly weak.
Wasting in the lower extremities was confined to both extensor digitorum brevis muscles, greater on the left, which was associated with weakness of toe extension. Otherwise, strength in his lower extremities was preserved. There was no Hoffmann or Babinski sign, and his jaw jerk was normal. His gait was normal.
Pinprick and temperature sensation were diminished to the lower third of the calves. Vibratory and position sense was diminished in a stocking distribution in the distal lower extremities, and the Romberg sign was positive. The result of magnetic resonance imaging of the cervical spine was normal, with minimal degenerative changes of the spine. With the exception of a mildly increased creatine kinase level 3. The complete blood cell count revealed a hemoglobin level of Cerebrospinal fluid HIV viral assays were not performed.
Electrophysiological studies performed on February 20, , showed evidence of active and chronic denervation bilaterally of muscles innervated by C5 through the middle thoracic nerve roots by electromyography. The result of needle electromyography of the lower extremities was normal, with the exception of the observation of long-duration large-amplitude motor unit action potentials, fibrillation potentials, and mildly reduced recruitment in the muscles supplied by the superficial and deep peroneal nerves.
Motor conductions were all greater than the 90th percentile of the lower limit of normal, with normal amplitudes.
The changes overall were compatible with a mild to moderate distal sensorimotor polyneuropathy with predominantly axonal features. The findings on the nerve conduction study were complex and believed to be most consistent with diabetic peripheral neuropathy, a right peroneal neuropathy, and bilateral mild ulnar nerve entrapments at the elbow.
A trial of intravenous immunoglobulin was initiated in October without any improvement. Through January , there was neither significant progression of his weakness nor development of any cranial nerve abnormalities or weakness, cramps, or fasciculations of the lower extremities.
Motor neuron disease with HIV infection may appear in several forms. A summary of previously reported cases of motor neuron disease complicating HIV infection and a summary of our patient are included in the Table. Motor neuron disease with HIV infection may be indistinguishable from classic ALS, resulting in an inexorably progressive disorder of upper and lower motor neurons.
Our patient had focal weakness of the right upper extremity that progressed to involve the left upper extremity during the ensuing year.
The weakness and wasting have remained confined to a few myotomes of the cervical and upper thoracic region. There has been neither involvement of bulbar muscles nor progressive weakness of his lower extremities. The lower extremity findings of distal sensory loss, depressed ankle jerks, and distal wasting and weakness are the consequence of his concomitant diabetic peripheral neuropathy and mild entrapment neuropathies.
Therefore, we believe that profound weakness and wasting of his upper extremities are consistent with BAD. Diabetes may result in brachial and lumbosacral plexopathies, resulting in a disorder referred to as diabetic radiculoplexus neuropathy or diabetic amyotrophy that may mimic the disorder observed in our patient. Motor neuron disease occurring in association with HIV infection has been attributed to direct damage to the motor neurons by HIV, neurotoxic HIV viral proteins, cytokines and chemokines arising consequent to HIV infection, and opportunistic viruses that directly attack motor neurons.
Flaccid paralysis has been reported with various viruses in the Enterovirus genus. While the pathogenesis of ALS remains a conundrum, several theories have been proposed. Among the possible mechanisms that are considered are neuronal excitation and free radical generation. In conclusion, motor neuron disease occurs in association with HIV infection. These disorders remain rare, and their underlying pathogenesis is uncertain.
Correspondence: Joseph R. Author Contributions: Study concept and design : Berger and Kissel. Acquisition of data : Berger and Kissel. Analysis and interpretation of data : Berger and Espinosa. Drafting of the manuscript : Berger and Espinosa. Critical revision of the manuscript for important intellectual content : Berger and Kissel. Administrative, technical, and material support : Berger and Espinosa. Study supervision : Berger. Arch Neurol. Coronavirus Resource Center. All Rights Reserved.
Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder. Brachial diplegia caused by cervical spinal cord ischemia: a case [in French]. Neurologia ; PubMed Google Scholar. Muscle Nerve ; Google Scholar Crossref. Clinical Neurovirology. Detection of reverse transcriptase activity in the serum of patients with motor neurone disease.
A spontaneous lower motor neuron disease apparently caused by indigenous type-C RNA virus in wild mice. In vitro induction of neuronal apoptosis by anti—Fas antibody—containing sera from amyotrophic lateral sclerosis patients.
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Brachial Amyotrophic Diplegia: A Slowly Progressive Motor Neuron Disorder
We report a case of progressive symmetric brachial weakness followed by cervical muscle weakness. The electromyogram confirmed the diagnosis of amyotrophic lateral sclerosis. After 3 years the patient remained able to walk unassisted and without significant bulbar manifestations or upper neuron signs. The concomitant presence of dropped head syndrome and man-in-barrel syndrome in an amyotrophic lateral sclerosis patient makes our case unique.
Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal disease, comprised of mixed upper and lower motor neuron involvement in different spinal cord regions. Characteristic initial presentations have implications for prognosis. Bulbar onset patients progress more rapidly than limb-onset patients, or patients with a pure lower motor neuron presentation. Other regional variants have been described where disease is restricted to one spinal region at presentation, including a flail arm or flail leg, and restricted respiratory or bulbar disease. More recent descriptions of regional variants suggest some ALS patients have disease isolated to a single spinal region for many years, including: brachial amyotrophic diplegia; leg amyotrophic diplegia; and isolated bulbar palsy. More clearly defining regional variants will have implications for prognosis, but also for understanding the pathophysiology of ALS, for identifying genetic factors related to slower disease progression, and for future clinical trial planning. ALS is a rapidly progressive disease characterized by degeneration of motor nerves in the brain and spinal cord that is invariably fatal, with overall median survival between 3—4 years.
Although amyotrophic lateral sclerosis and progressive spinal muscular atrophy have been recognized to occur in association with human immunodeficiency virus infection, to our knowledge, brachial amyotrophic diplegia, a form of segmental motor neuron disease, has not been previously reported. Brachial amyotrophic diplegia results in severe lower motor neuron weakness and atrophy of the upper extremities in the absence of bulbar or lower extremity involvement, pyramidal features, bowel and bladder incontinence, and sensory loss. We describe a human immunodeficiency virus—seropositive man without severe immunosuppression or prior AIDS-defining illnesses who had brachial amyotrophic diplegia. This disorder may represent one end of a spectrum of motor neuron diseases occurring with this retrovirus infection. Motor neuron disease associated with human immunodeficiency virus HIV infection was first reported in , 1 4 years after the initial description of AIDS. This year-old man was first aware of a slowly progressive weakness of the right shoulder in June when he noted difficulty lifting heavy objects above his head with his right arm. The symptoms in his right arm progressed, and by June , a similar weakness had developed in the left shoulder.