Edit concept Question Editor Create issue ticket

Peripheral Motor Neuropathy - Dysautonomia Syndrome

Lisker-Garcia-Ramos Syndrome


Presentation

  • 1st sign - Distal, symmetric sensory sxs Motor and reflex sxs develop later Vitamin B12 Polyneuropathy Ptx population and presentation ETOH, vegans, post gastrectomy, IBD - distal, symmetric numbness, weakness that affects posterior columns Vitamins[quizlet.com]
  • Presumptive diagnosis is based on patient history and clinical presentation.[arupconsult.com]
  • We speculate that there maybe a subgroup of patients who follow a chronic neurological course after a less severe paediatric presentation.[jnnp.bmj.com]
  • Perrault Syndrome Clinical Characteristics Ocular Features: Nystagmus and limited extraocular movements are usually present in PRLTS1. Optic atrophy and poor visual acuity have been reported. Ptosis may be present.[disorders.eyes.arizona.edu]
  • We describe a 78-year-old woman who presented with a two-day history of progressive generalised weakness and left facial nerve palsy, preceded by a flu-like illness lasting for one week.[uthealth.influuent.utsystem.edu]
Weakness
  • […] improvement in weakness prevents release of ACh @ NMJ -- neuromuscular paralysis that begins in 12-72 hours Botulism Presentation 1 yr Constipation Poor feeding FTT with weakness and impaired respiration Supportive care Antitoxin Avoid aminoglycosides[quizlet.com]
  • With this class of disorders, patients experience pain, numbness, tingling, and weakness.[austinneuromuscle.com]
  • […] in the fingers double vision or other problems with focusing your eyes, sometimes with eye pain weakness of one side of your face (Bell's palsy) foot or shin pain, weakness or altered sensation The most common type of mononeuropathy is carpal tunnel[nhs.uk]
  • Muscle weakness usually begins in the lower legs and then the lower arms. Progress is usually slow, but in severe cases, muscle weakness can progress to affect the proximal portions of the arms and legs.[rarediseases.org]
  • Symptoms via clinical synopsis from OMIM: 57 Neuro: orthostatic hypotension autonomic dysfunction Skin: profuse sweating distal cyanosis related to cold Lab: slow nerve conduction velocity nonspecific sural nerve demyelination Muscle: progressive muscle weakness[malacards.org]
Physician
  • Parents should talk to their own or their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • J Assoc Physicians India 1987;35:417–419. Persson A, Solders G: R-R variations in Guillain-Barré syndrome: A test of autonomic dysfunction. Acta Neurol Scand 1983;67:294–300.[karger.com]
  • In other words, the peripheral nerves can be more sensitive than the diagnostic tests used by physicians to detect diabetes. Other forms of peripheral neuropathy, such as that caused by amyloidosis, have even stronger dysautonomias.[verywell.com]
  • KASSAB, MD, Michigan State University College of Human Medicine, East Lansing, Michigan Am Fam Physician. 2010 Apr 1;81(7):887-892. Peripheral neuropathy has a variety of systemic, metabolic, and toxic causes.[aafp.org]
  • American Family Physician. 81 (7): 887–92. PMID 20353146. a b c Watson JC, Dyck PJ (July 2015). "Peripheral Neuropathy: A Practical Approach to Diagnosis and Symptom Management".[en.wikipedia.org]
Splenomegaly
  • […] onset, more severe D D HNPP AD Variable onset, compression neuropathies, S/M D Familial amyloidosis AD Variable onset, autonomic and S/M A Refsum’s disease AR Variable onset, ataxia, retinitis pigmentosa D Tangier disease AR Very rare, variable onset, splenomegaly[clevelandclinicmeded.com]
Constipation
  • […] weakness Urinary dysfunction: frequency, excessive urinating at night, urgency, stress incontinence, retention, hesitancy Sexual dysfunction: erectile dysfunction, vaginal dryness, decreased libido Gastrointestinal dysfunction: intermittent diarrhea, constipation[my.clevelandclinic.org]
  • Symptoms of autonomic neuropathy can include: constipation or diarrhoea , particularly at night feeling sick, bloating and belching low blood pressure (postural or orthostatic hypotension), which can make you feel faint or dizzy when standing up rapid[nhs.uk]
  • Gastrointestinal Constipation. Diarrhoea. Incontinence. Dry mouth. Disturbance of taste. Sexual Impotence. Ejaculatory failure. Female sexual dysfunction. Feet Burning sensation. Hair loss. Pruritus. Dry skin. Pale, cold feet.[patient.info]
  • Primary symptoms of autonomic disorders include positional lightheadedness or fainting, heat intolerance, heart palpitations, excessive fatigue or thirst, constipation, and urinary retention.[austinneuromuscle.com]
  • Difficulty digesting food, such as feeling full after a few bites of food, loss of appetite, diarrhea, constipation, abdominal bloating, nausea, vomiting, difficulty swallowing and heartburn, all due to changes in digestive function.[mayoclinic.org]
Hypotension
  • Idiopathic Orthostatic Hypotension A rare degenerative disease, idiopathic orthostatic hypotension comes on in mid to late life and involves lesions in the post-ganglionic sympathetic neurons, which prevent the heart from speeding up when needed.[verywell.com]
  • This may range from measures to prevent orthostatic hypotension to improvements in self-care (from hygiene to care of diabetes mellitus). Treatment of the underlying cause. Orthostatic hypotension: see also the separate article on Hypotension.[patient.info]
  • Affiliated tissues include skeletal muscle , and related phenotypes are hyperhidrosis and acrocyanosis Description from OMIM: 252320 Symptoms via clinical synopsis from OMIM: 57 Neuro: orthostatic hypotension autonomic dysfunction Skin: profuse sweating[malacards.org]
  • Primary causes of autonomic neuropathy include: Familial dysautonomia (Riley-Day syndrome) Idiopathic orthostatic hypotension (progressive autonomic failure) Multiple system atrophy with autonomic failure (Shy-Drager syndrome) Parkinson’s syndrome with[my.clevelandclinic.org]
  • Abstract We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal[ncbi.nlm.nih.gov]
Orthostatic Hypotension
  • Idiopathic Orthostatic Hypotension A rare degenerative disease, idiopathic orthostatic hypotension comes on in mid to late life and involves lesions in the post-ganglionic sympathetic neurons, which prevent the heart from speeding up when needed.[verywell.com]
  • Affiliated tissues include skeletal muscle , and related phenotypes are hyperhidrosis and acrocyanosis Description from OMIM: 252320 Symptoms via clinical synopsis from OMIM: 57 Neuro: orthostatic hypotension autonomic dysfunction Skin: profuse sweating[malacards.org]
  • This may range from measures to prevent orthostatic hypotension to improvements in self-care (from hygiene to care of diabetes mellitus). Treatment of the underlying cause. Orthostatic hypotension: see also the separate article on Hypotension.[patient.info]
  • Abstract We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal[ncbi.nlm.nih.gov]
  • Primary causes of autonomic neuropathy include: Familial dysautonomia (Riley-Day syndrome) Idiopathic orthostatic hypotension (progressive autonomic failure) Multiple system atrophy with autonomic failure (Shy-Drager syndrome) Parkinson’s syndrome with[my.clevelandclinic.org]
Tachycardia
  • Ganglionic receptor antibodies (postural orthostatic tachycardia syndrome). Ganglioside autoantibodies (Guillain-Barré syndrome). Antibodies to presynaptic channels (Eaton-Lambert syndrome).[patient.info]
  • […] autonomic neuropathy can include: constipation or diarrhoea , particularly at night feeling sick, bloating and belching low blood pressure (postural or orthostatic hypotension), which can make you feel faint or dizzy when standing up rapid heartbeat (tachycardia[nhs.uk]
  • […] polyneuropathy CWP — chronic widespread pain ENF — epidermal nerve fiber ESR — erythrocyte sedimentation rate GBS — Guillain-Barré syndrome, (acute inflammatory demyelinating polyneuropathy) IVIG — intravenous immune globulin POTS — postural orthostasis tachycardia[pediatrics.aappublications.org]
  • There may also be visceral autonomic dysfunction (tachycardia, erectile dysfunction, constipation, urinary retention).[neuropathology-web.org]
  • . - Dysautonomic crisis : Brief episodes of nausea, vomiting, tachycardia (rapid and irregular heartbeat), high blood pressure (Abnormal elevation of blood pressure), hyperhidrosis (excessive and abnormal sweating), increase in body temperature, tachypnea[lifepersona.com]
Cyanosis
  • Abstract We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal[ncbi.nlm.nih.gov]
  • […] tissues include skeletal muscle , and related phenotypes are hyperhidrosis and acrocyanosis Description from OMIM: 252320 Symptoms via clinical synopsis from OMIM: 57 Neuro: orthostatic hypotension autonomic dysfunction Skin: profuse sweating distal cyanosis[malacards.org]
Muscle Weakness
  • Muscle weakness usually begins in the lower legs and then the lower arms. Progress is usually slow, but in severe cases, muscle weakness can progress to affect the proximal portions of the arms and legs.[rarediseases.org]
  • Typical symptoms are muscle weakness, paralysis, respiratory distress and intractable pain. Neuromuscular disorders are often progressive and in some cases even fatal.[austinneuromuscle.com]
  • weakness muscle hypotrophy GI: esophageal achalasia Clinical features from OMIM: 252320 Human phenotypes related to Motor Neuropathy, Peripheral, with Dysautonomia: 59 32 (show all 13) # Description HPO Frequency Orphanet Frequency HPO Source Accession[malacards.org]
  • They include Numbness Pain Burning or tingling Muscle weakness Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke[medlineplus.gov]
  • They include Numbness Pain Burning or tingling Muscle weakness Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms.[icdlist.com]
Myopathy
  • Myopathy This muscle disease presents with muscle weakness or pain due to muscle dysfunction. There are several types of myopathies, and they can be hereditary, autoimmune, inflammatory, or toxic.[austinneuromuscle.com]
  • Neuromyopathies Uremia Sarcoidosis Amyloidosis Paraneoplastic Connective tissue disorders Acromegaly HIV HTLV1 Lyme disease Critical illness myopathy and neuropathy Mitochondrial disorders Inclusion body myopathy Adult polyglucosan body disease Toxic:[hickoryneurology.net]
  • […] skull defects Limb transversal defect cardiac anomaly Limb-body wall complex Limb-girdle muscular dystrophy Limnophobia Lindsay Burn syndrome Lindstrom syndrome Linear hamartoma syndrome Linear nevus syndrome Linonophobia Lip lit syndrome Lipid storage myopathy[bioreference.net]
  • […] defects Limb transversal defect cardiac anomaly Limb-body wall complex Limb-girdle muscular dystrophy Limnophobia Lindsay Burn syndrome Lindstrom syndrome Linear hamartoma syndrome Linear nevus syndrome Linonophobia Lip-Lis Lip lit syndrome Lipid storage myopathy[wikidoc.org]
  • Limb scalp and skull defects Limb transversal defect cardiac anomaly Limb-body wall complex Limb-girdle muscular dystrophy Lindsay–Burn syndrome Lindstrom syndrome Linear hamartoma syndrome Linear nevus syndrome Lip–Lis Lip lit syndrome Lipid storage myopathy[wikiwand.com]
Osteoporosis
  • Chaverra M, George L, Mergy M, Waller H, Kujawa K, Murnion C, Sharples E, Thorne J, Podgajny N, Grindeland A, Ueki Y, Eiger S, Cusick C, Babcock AM, Carlson GA, Lefcort F Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis[medicbind.com]
Muscular Atrophy
  • Bell First published July 1, 1995, DOI: Abstract We report the clinical and electrophysiologic data on five subjects from two families with severe sensory and autonomic neuropathy who also exhibited peroneal muscular atrophy with the electrophysiologic[neurology.org]
Polyneuropathy
  • Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial[books.google.com]
  • Chronic Inflammatory Demyelinating Polyneuropathy relapse Causes of Chronic Demyelinating Polyneuropathy Genetics Inflammatory Autoimmune Polyneuropathy Presentation 1st sign - Distal, symmetric sensory sxs Motor and reflex sxs develop later Vitamin[quizlet.com]
  • For example, optimizing glycemic control in diabetic polyneuropathy often stabilizes or improves the polyneuropathy.[clevelandclinicmeded.com]
  • Neuropathies (Neuropathic Pains) “Polyneuropathies (Myelinopathies)” Myelinopathy (Polyneuropathy) In our body's nervous system, the neurological dis-order, Polyneuropathies (Myelinopathies) are multiple site neuropathies (neuropathic pains) indicative[wellnessadvocate.com]
  • Polyneuropathy Polyneuropathy accounts for the greatest number of peripheral neuropathy cases. It occurs when multiple peripheral nerves throughout the body malfunction at the same time.[webmd.com]
Peripheral Neuropathy
  • Features of Textbook of Peripheral Neuropathy Include : ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral neuropathies ̈ Clinical Pearls and Key Points are set off from the text for[books.google.com]
  • Diagnosis of the Patient with Suspected Peripheral Neuropathy Figure 1. Approach to the patient with peripheral neuropathy.[aafp.org]
  • The term "peripheral neuropathy" sometimes is used loosely to refer to polyneuropathy.[en.wikipedia.org]
  • (Gait Instability) Peripheral Neuropathy With peripheral neuropathy, there has been damage to the peripheral nervous system, which is the communication network that transmits information from the brain and spinal cord to every other part of the body.[austinneuromuscle.com]
  • Types of Peripheral Neuropathy There are several different kinds of peripheral neuropathies that stem from a variety of causes.[webmd.com]
Dysautonomia
  • Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia. Hervé M, Ibrahim EC Familial dysautonomia: a disease with hidden tears.[medicbind.com]
  • Other Dysautonomias Hyperhydrosis is a less life-threatening, but still potentially embarrassing dysautonomia that results in inappropriately heavy perspiration.[verywell.com]
  • MalaCards based summary : Motor Neuropathy, Peripheral, with Dysautonomia, is also known as peripheral motor neuropathy-dysautonomia syndrome .[malacards.org]
  • We describe a case of fulminant GBS mimicking clinical brain death where patient died of unexplained asystolic cardiac arrest related to severe dysautonomia. Dysautonomia is a marker of poor prognosis in this patient population.[journalmc.org]
  • Retrieved from the Dysautonomia Foundation: FPN. (2016). What Is Peripheral Neuropathy. Retrieved from"The Foundation for Peripheral Neuropathy: Genetics Home Reference. (2016). Familial dysautonomia.[lifepersona.com]
Mononeuropathy
  • Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial[books.google.com]
  • […] palsy) foot or shin pain, weakness or altered sensation The most common type of mononeuropathy is carpal tunnel syndrome (CTS) .[nhs.uk]
  • Mononeuropathy Damage to a single peripheral nerve is called mononeuropathy. Physical injury or trauma such as from an accident is the most common cause.[webmd.com]
  • When two or more (typically just a few, but sometimes many) separate nerves in disparate areas of the body are affected it is called " mononeuritis multiplex ", "multifocal mononeuropathy", or "multiple mononeuropathy". [4] [5] [6] Neuropathy may cause[en.wikipedia.org]
  • […] where function RETURNS to normal Summation Temporal vs Spatial Multiple stimuli add together to produce an AP - many in close sequence vs. many at the same time Unilateral peripheral neuropathy MoI Direct trauma, compression, or entrapment Peripheral Mononeuropathy[quizlet.com]
Tremor
  • GM1 MMN, ALS/MND, GBS, AMAN GM2 GBS variants GD1a Axonal GBS GD1b Sensory peripheral neuropathy, MND, GBS GQ1b MFS, acute ophthalmoplegia, cerebellar ataxia MAG/SGPG Inflammatory (often demyelinating) neuropathy with IgM gammopathy, gait ataxia, hand tremor[arupconsult.com]
  • Parkinson's disease Spinal cord trauma Surgical sympathectomy Patients with Parkinson's disease can have autonomic dysfunction (constipation and urinary retention) but unlike peripheral autonomic neuropathies have extrapyramidal dysfunction (akinesia, tremor[patient.info]
  • On occasion, when significant proprioceptive deafferentation occurs, patients are found to have altered joint position sense that can manifest as an ataxia or tremor of the affected limbs and an imbalance of gait and station.[clevelandclinicmeded.com]
  • Symptoms vary depending on the types of nerve fiber involved. [ citation needed ] In terms of sensory function, symptoms commonly include loss of function ("negative") symptoms, including numbness, tremor, impairment of balance, and gait abnormality.[en.wikipedia.org]
Onset in Infancy
  • Systemic Features: Progressive spasticity has its onset in infancy with loss of independent mobility usually in the second decade of life. An exaggerated startle response occurs in some individuals.[disorders.eyes.arizona.edu]

Treatment

  • Gabapentin for the symptomatic treatment of painful neuropathy in patients with diabetes mellitus: a randomized controlled trial. ‏[books.google.com]
  • The textbookprovides an evidence-based approach to testing, differential diagnosis, and treatment, and should serveas a trusted resource for healthcare professionals confronting the many manifestations of peripheralneuropathy in clinical practice.[books.google.com]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Plasma exchange was the first treatment in Guillain-Barré syndrome proven to be superior to supportive treatment alone and intravenous immunoglobulin was subsequently shown to be equally effective and is now commonly used as first-line treatment.[uthealth.influuent.utsystem.edu]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]

Prognosis

  • Dysautonomia is a marker of poor prognosis in this patient population.[journalmc.org]
  • Parents should talk to their own or their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • Hussain can often treat spasticity, though the prognosis depends largely on the severity of the symptoms and the associated disorder.[austinneuromuscle.com]
  • Prognosis The prognosis is determined by the particular cause of the autonomic neuropathy. In most cases the course is one of gradual progression. In the case of diabetes mellitus the prognosis is improved with good control of diabetes.[patient.info]
  • Halls J, Bredkjær C, Friis ML: Guillain-Barré syndrome: Diagnostic criteria, epidemiology, clinical course and prognosis. Acta Neurol Scand 1988;78:118–122.[karger.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Tabs Content Clinical Overview Indications for Testing Autoantibody testing might be considered in individuals presenting with severe or rapidly progressive muscle weakness and sensory symptoms and no known underlying infection or etiology.[arupconsult.com]
  • ., demyelinating vs. axonal), by etiology, or by pattern of inheritance.[wellnessadvocate.com]
  • Diagnostic criteria of PNSs The presence of a neurological syndrome of unclear etiology at the time of the diagnosis of a tumor does not necessarily mean that the neurological syndrome is paraneoplastic, as this could represent the coincidental occurrence[bloodjournal.org]
  • With a systematic approach to the evaluation of these disorders, approximately 75% of patients have a specific etiologic diagnosis.[clevelandclinicmeded.com]

Epidemiology

  • ......................................................................................... 229 Ocular Imaging ............................................................................................................................. 234 Ophthalmic Epidemiology[slidex.tips]
  • The epidemiology of dry eye disease: report of the Epidemiology Subcommittee of the International Dry Eye WorkShop (2007). Ocul Surf . 2007;5(2):93–107. 2. Viso E, Rodriguez-Ares MT, Gude F.[dovepress.com]
  • Epidemiology In general, these can occur in men and women at any age, but the epidemiology will depend on the particular cause. Some causes are very rare.[patient.info]
  • Halls J, Bredkjær C, Friis ML: Guillain-Barré syndrome: Diagnostic criteria, epidemiology, clinical course and prognosis. Acta Neurol Scand 1988;78:118–122.[karger.com]
  • In Annals of Epidemiology. Jun 2015 Language: English. DOI: 10.1016/j.annepidem.2015.11.002 The Efficacy of Mindfulness-Based Interventions in Primary Care: A Meta-Analytic Review. (English) ; Abstract available.[tikpdf.tips]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology As might be expected, various pathophysiological processes are involved depending on the particular cause. [ 3 ] Although loss of somatic C fibres is associated with autonomic deficits, there is now known to be a more selective involvement[patient.info]
  • Back to Top Pathophysiology and Natural History Despite the diverse array of medical disorders that cause peripheral neuropathies, peripheral nerves exhibit only a few distinct pathologic reactions to an insult or disease: wallerian degeneration, axonal[clevelandclinicmeded.com]
  • […] complaints in some DE patients mirror those found in nonocular neuropathic pain disorders including spontaneous burning pain, hyperalgesia, and allodynia (which in the eye manifest as wind- and light-evoked pain). 29 , 31 Supporting the idea that different pathophysiologies[dovepress.com]

Prevention

  • […] and obturator nerves - quads, iliopsoas, adductor Magnus - ipsilateral loss of knee jerk Autonomic Diabetic Neuropathy Sxs Vasomotor disturbance in limbs - Unaware of hypoglycemia - exercise intolerance and dizziness - orthostatic HOTN - Gastric atony Preventing[quizlet.com]
  • Prevention While certain inherited diseases that put you at risk of developing autonomic neuropathy can't be prevented, you can slow the onset or progression of symptoms by taking care of your health in general and managing your medical conditions.[mayoclinic.org]
  • Prevention of presynaptic acetylcholine release (botulism). Accumulation of toxic metabolites (for example, in liver disease). Postganglionic abnormalities (connective tissue diseases, systemic lupus erythematosus (SLE), rheumatoid arthritis).[patient.info]
  • Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing an accurate picture of associated symptoms and prognosis[rarediseases.org]
  • Idiopathic Orthostatic Hypotension A rare degenerative disease, idiopathic orthostatic hypotension comes on in mid to late life and involves lesions in the post-ganglionic sympathetic neurons, which prevent the heart from speeding up when needed.[verywell.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!