Brachial amyotrophic diplegia

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Brachial amyotrophic diplegia, also called Vulpian-Bernhardt Syndrome (VBS), flail arm syndrome, or man-in-barrel syndrome, is a rare motor neuron disease, often considered to be a phenotype or regional variant of amyotrophic lateral sclerosis. [1] In the first twelve to eighteen months, only a progressive weakness of one or both arms is observed. [2] Within the spectrum of ALS, this subtype has a relatively longer survival time. Because of its distinct symptoms, it was suggested that VBS is a separate entity, different from ALS.

Contents

History

The disease was described first in 1886 by the French neurologist Alfred Vulpian and the German neuropathologist Martin Bernhardt as a progressive weakness of the upper limbs but bulbar muscles unaffected. [3] It is a rare and atypical disease that can only be diagnosed after a significant time has elapsed. [4] A 2015 study found significant differences between ALS and VBS, most importantly the absence of signs of upper motor neuron compromise in patients with VBS. The study suggested that VBS is a different entity from ALS. [5]

Pathophysiology

While the cause is usually unknown, it can arise as a paraneoplastic syndrome. [6] There have been case reports linking the condition to SOD1 mutations. [7]

Symptoms

A study of 1,188 ALS cases in London between 1993 and 2007, and 432 in Melbourne, classified cases as flail arm syndrome when in the first 12 months only a weakness of upper limbs was reported. [8] Based on this criterium, 135 cases or 11% were classified as flail arm syndrome. At later stages, weakening of lower limbs and other ALS symptoms were observed. 16 per cent of these flail arm syndrome cases survived more than ten years, the highest of all variants of ALS in the study.

Cases

One of the few people with brachial amyotrophic diplegia who has spoken in public about the disease is Sonia Bustamante Dominguez, a Mexican woman who showed the first symptoms in 2012 and was diagnosed in 2016. In 2024 she described her body as a jail. [9]

Related Research Articles

<span class="mw-page-title-main">Motor neuron diseases</span> Group of neurological disorders affecting motor neurons

Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.

Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe syndromes in the spectrum are cramp fasciculation syndrome and benign fasciculation syndrome. NMT can have both hereditary and acquired (non-inherited) forms. The prevalence of NMT is unknown.

<span class="mw-page-title-main">Spinal and bulbar muscular atrophy</span> Medical condition

Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.

Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.

A flail limb is a medical term which refers to an extremity in which the primary nerve has been severed or ceased to function, resulting in complete lack of mobility and sensation. Although blood typically continues to flow through the limb, it is completely useless and potential for surgical repair is limited. The muscles soon wither away from atrophy, and the limb swings loosely at the side like a "dead weight."

<span class="mw-page-title-main">Progressive muscular atrophy</span> Medical condition

Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.

<span class="mw-page-title-main">Fazio–Londe disease</span> Medical condition

Fazio–Londe disease (FLD), also called progressive bulbar palsy of childhood, is a very rare inherited motor neuron disease of children and young adults and is characterized by progressive paralysis of muscles innervated by cranial nerves. FLD, along with Brown–Vialetto–Van Laere syndrome (BVVL), are the two forms of infantile progressive bulbar palsy, a type of progressive bulbar palsy in children.

Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).

Pseudobulbar palsy is a medical condition characterized by the inability to control facial movements and caused by a variety of neurological disorders. Patients experience difficulty chewing and swallowing, have increased reflexes and spasticity in tongue and the bulbar region, and demonstrate slurred speech, sometimes also demonstrating uncontrolled emotional outbursts.

Diplegia, when used singularly, refers to paralysis affecting symmetrical parts of the body. This is different from hemiplegia which refers to spasticity restricted to one side of the body, paraplegia which refers to paralysis restricted to the legs and hip, and quadriplegia which requires the involvement of all four limbs but not necessarily symmetrical. Diplegia is the most common cause of crippling in children, specifically in children with cerebral palsy. Other causes may be due to injury of the spinal cord. There is no set course of progression for people with diplegia. Symptoms may get worse but the neurological part does not change. The primary parts of the brain that are affected by diplegia are the ventricles, fluid filled compartments in the brain, and the wiring from the center of the brain to the cerebral cortex. There is also usually some degeneration of the cerebral neurons, as well as problems in the upper motor neuron system. The term diplegia can refer to any bodily area, such as the face, arms, or legs.

<span class="mw-page-title-main">Canine degenerative myelopathy</span> Progressive disease in dogs

Canine degenerative myelopathy, also known as chronic degenerative radiculomyelopathy, is an incurable, progressive disease of the canine spinal cord that is similar in many ways to amyotrophic lateral sclerosis (ALS). Onset is typically after the age of 7 years and it is seen most frequently in the German shepherd dog, Pembroke Welsh corgi, and boxer dog, though the disorder is strongly associated with a gene mutation in SOD1 that has been found in 43 breeds as of 2008, including the wire fox terrier, Chesapeake Bay retriever, Rhodesian ridgeback, and Cardigan Welsh corgi. Progressive weakness and incoordination of the rear limbs are often the first signs seen in affected dogs, with progression over time to complete paralysis. Myelin is an insulating sheath around neurons in the spinal cord. One proposed cause of degenerative myelopathy is that the immune system attacks this sheath, breaking it down. This results in a loss of communication between nerves in lower body of the animal and the brain.

<span class="mw-page-title-main">SOD1</span> Protein-coding gene in the species Homo sapiens

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.

Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness.

<span class="mw-page-title-main">ALS</span> Rare neurodegenerative disease

Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease in the United States, is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as limb-onset or bulbar-onset.

<span class="mw-page-title-main">Hirayama disease</span> Medical condition

Hirayama disease, also known as monomelic amyotrophy (MMA), is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males, with an average age of onset between 15 and 25 years. Hirayama disease is reported most frequently in Asia but has a global distribution. It is typically marked by insidious onset of muscle atrophy of an upper limb, which plateaus after two to five years from which it neither improves nor worsens. There is no pain or sensory loss. It is not believed to be hereditary.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that typically affects adults around 54–67 years of age, although anyone can be diagnosed with the disease. People diagnosed with ALS live on average 2–4 years after diagnosis due to the quick progression of the disease. The progression and severity of ALS is rated by doctors on the ALS Functional Rating Scale, which has been revised and is referred to as ALSFRS-R.

There are more than 25 genes known to be associated with amyotrophic lateral sclerosis (ALS) as of June 2018, which collectively account for about 70% of cases of familial ALS (fALS) and 10% of cases of sporadic ALS (sALS). About 5–10% of cases of ALS are directly inherited. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. ALS has an oligogenic mode of inheritance, meaning that mutations in two or more genes are required to cause disease.

Research on amyotrophic lateral sclerosis (ALS) has focused on animal models of the disease, its mechanisms, ways to diagnose and track it, and treatments.

Facial onset sensory and motor neuronopathy, often abbreviated FOSMN, is a rare disorder of the nervous system in which sensory and motor nerves of the face and limbs progressively degenerate over a period of months to years. This degenerative process, the cause of which is unknown, eventually results in sensory and motor symptoms — the former consisting mainly of paresthesia followed by numbness, and the latter in muscle weakness, atrophy, and eventual paralysis. FOSM is characterized by sensory and motor loss beginning in the face and spreading to involve an increasingly larger area including the scalp, upper arms and trunk. The muscles or respiration and swallowing are commonly affected. In many ways, it is reminiscent of the much better known condition amyotrophic lateral sclerosis, with which it is closely related. There is no cure; treatment is supportive. Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues working at the Massachusetts General Hospital in the United States; subsequent reports from the United Kingdom, Europe and Asia point to a global incidence of the disease. It is thought to be exceptionally rare, with only approximately 100 individuals described to date in the medical literature.

References

  1. ↑ Jawdat, Omar; Statland, Jeffrey M.; Barohn, Richard J.; Katz, Jonathan; Dimachkie, Mazen M. (November 2015). "ALS Regional Variants (Brachial Amyotrophic Diplpegia, Leg Amyotrophic Diplegia, and Isolated Bulbar ALS)". Neurologic Clinics. 33 (4): 775–785. doi:10.1016/j.ncl.2015.07.003. ISSN   0733-8619. PMC   4629514 . PMID   26515621.
  2. ↑ Masrori, P.; Van Damme, P. (October 2010). "Amyotrophic lateral sclerosis: a clinical review". European Journal of Neurology. 27 (10): 1918–1929. doi:10.1111/ene.14393. ISSN   1351-5101. PMC   7540334 . PMID   32526057.
  3. ↑ III, Harry LeVine (2019-10-11). What You Need to Know about ALS. Bloomsbury Publishing USA. ISBN   979-8-216-16430-2 . Retrieved 2024-06-27.
  4. ↑ López Hernández, Juan Carlos; Bazán Rodríguez, Lisette; Pérez Torres, Teresa; Delgado García, Guillermo; García Trejo, Sofía; Cervantes Uribe, Roberto; Jorge de Saráchaga, Adib; León Manríquez, Elizabeth; Vargas Cañas, Edwin Steven (2021). "Síndrome de Vulpian-Bernhardt. Frecuencia, características clínicas y electrofisiológicas en un centro de atención de tercer nivel en México". Revista de Neurología (in Spanish). 72 (3): 85–91. doi:10.33588/rn.7203.2020126. ISSN   0210-0010. PMID   33506486 . Retrieved 2024-06-27.
  5. ↑ Yang, Hecheng; Liu, Mingsheng; Li, Xiaoguang; Cui, Bo; Fang, Jia; Cui, Liying (2015-06-09). "Neurophysiological Differences between Flail Arm Syndrome and Amyotrophic Lateral Sclerosis". PLOS ONE. 10 (6): e0127601. Bibcode:2015PLoSO..1027601Y. doi: 10.1371/journal.pone.0127601 . PMC   4461255 . PMID   26056822.
  6. ↑ Kherbek, Haidara; Itoh, Christopher Y.; Daley, Catherine; Eggers, Scott D.; Hinson, Shannon; Sarker, Pallab; Staff, Nathan P.; Pittock, Sean J.; Dubey, Divyanshu (July 2024). "Clinical and serological insights into paraneoplastic brachial amyotrophic diplegia". Journal of Neurology. 271 (7): 4620–4627. doi:10.1007/s00415-024-12425-x. PMID   38772930.
  7. ↑ Valentino, P.; Conforti, F. L.; Pirritano, D.; Nisticò, R.; Mazzei, R.; Patitucci, A.; Sprovieri, T.; Gabriele, A. L.; Muglia, M.; Clodomiro, A.; Gambardella, A.; Zappia, M.; Quattrone, A. (26 April 2005). "Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)". Neurology. 64 (8): 1477–1478. doi:10.1212/01.WNL.0000158679.47281.03. PMID   15851752.
  8. ↑ Wijesekera, L C.; Mathers, S; Talman, P; Galtrey, C; Parkinson, M H.; Ganesalingam, J; Willey, E; Ampong, M A.; Ellis, C M. (2009-03-24). "Natural history and clinical features of the flail arm and flail leg ALS variants". Neurology. 72 (12): 1087–1094. doi:10.1212/01.wnl.0000345041.83406.a2. ISSN   0028-3878. PMC   2821838 . PMID   19307543.
  9. ↑ Sonia Enfrenta Cárcel en su Cuerpo con Síndrome Vulpian Bernhardt | N+ (in Mexican Spanish), 2024-06-11, retrieved 2024-06-27
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