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Familial Hemiplegic Migraine Type 2

FHM2


Presentation

  • Patients with FHM2 may also present without hemiplegia. Therefore, the full family history has to be taken into account to establish the diagnosis of FHM.[ncbi.nlm.nih.gov]
  • In conclusion, our present case report reinforces the potential interest of ion channels in the pathogenesis of PAH. Acknowledgments The authors thank M.[erj.ersjournals.com]
  • This edition presents the revised International Headache Society classification of headaches and explains how to use this new classification for accurate diagnosis.[books.google.com]
  • Quick Reference Test Code 7035 Turnaround Time (TAT) 14-21 days Number of Genes 4 Ordering Options Mutation Detection Rate Our FHM panel can detect 99.9% of described mutations in the included genes, when present (analytic sensitivity).[ambrygen.com]
Fever
  • She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis.[digital.csic.es]
  • […] diplopia, apraxia, dysarthria, impaired hearing, vertigoDiffuse brain swelling occurs during comaIctal EEG shows diffuse slow delta and theta activityCerebellar signs during episodesCerebellar ataxia during episodesMental retardation (less common); Fever[panelapp.genomicsengland.co.uk]
  • This gene has been connected to seizures, fever, and other mental illness, as well as at least two other types of migraine. This type of FHM often occurs with epilepsy.[relieve-migraine-headache.com]
  • Symptoms of FHM and SHM: Episodes of prolonged aura (up to several days or weeks) Hemiplegia (paralysis on one side of the body) Fever Meningismus (symptoms of meningitis without the actual illness and accompanying inflammation) Impaired consciousness[healthcentral.com]
  • Symptoms of Hemiplegic Migraine Motor weakness on one side of the body (Hemiplegia) Headache Other typical aura symptoms – vision changes (sparkles, shimmers, visual field defects), numbness, tingling, trouble speaking Fever Impaired consciousness ranging[americanmigrainefoundation.org]
Fatigue
  • […] that affects one side of the body) Aphasia (difficulty speaking, inability to speak, or inability to comprehend speech – often occurs with weakness on the right side) Drooping on one side of the face Neurologic symptoms Confusion Attention difficulties Fatigue[axonoptics.com]
  • : onset before 18 months of age; repeated bouts of hemiplegia of varying intensity involving either or both sides of the body at least in some attacks; hemiplegic attacks precipitated by various factors including emotional triggers, head trauma, and fatigue[jmg.bmj.com]
Turkish
  • Family 1 is the first Turkish family reported with FHM. These are the first de novo mutations reported for ATP1A2 , underscoring that mutations in the ATP1A2 gene are indeed causing FHM.[nature.com]
Musculoskeletal Pain
  • Her main areas of interest include pathophysiology, diagnosis and treatment of visceral pain and referred hyperalgesia, headache, musculoskeletal pain and fibromyalgia.[books.google.com]
Compulsive Disorder
  • Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments and psychiatric manifestations, such as obsessive-compulsive disorder (OCD).[semanticscholar.org]
Headache
  • The primary end-points were differences in incidence of migraine headache and area under the curve (AUC) for headache score during an immediate phase (0-120 min) and a delayed phase (2-14 h) after start of infusion.[ncbi.nlm.nih.gov]
  • Martin is the President of the Ohio Headache Association and Vice President of the National Headache Foundation. He has also been a fellow of the American Headache Society and the American College of Physicians.[books.google.com]
Cerebellar Sign
  • In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus.[ncbi.nlm.nih.gov]
  • Other neurological symptoms include various types of epileptic seizures and intellectual deficit; permanent cerebellar signs may be present in patients carrying a CACNA1A mutation [ 6 ].[erj.ersjournals.com]
  • Spadaro M , Ursu S , Lehmann-Horn F et al : A G301R Na( )/K( )-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs . Neurogenetics 2004; 5 : 177–185. 14.[nature.com]
  • Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Liana V, Antonini G, Giovanni A, Giunti P, Paola G, Frontali M, Jurkat-Rott K (2004) A G301R Na /K -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.[link.springer.com]
  • It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6.[karger.com]
Dysphasia
  • Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years.[digital.csic.es]
  • […] headache begins. 0100022 Hemiplegia/hemiparesis Paralysis or weakness of one side of body 0004374 30%-79% of people have these symptoms Ataxia 0001251 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 5%-29% of people have these symptoms Dysphasia[rarediseases.info.nih.gov]
  • She was admitted to the psychiatry department; at neurological examination she had dysphasia and right central facial palsy. A 1.5-tesla MRI and EEG were normal. All symptoms disappeared in a 48 h period.[link.springer.com]
  • Since early childhood, the patient had a poor balance, and from the age of 13 years, migraine with aura symptoms described as photosensitivity, scintillating scotomas, unilateral hemiparesis and dysphasia occurred.[karger.com]
  • Attacks in both brothers lasted 24–36 h and were associated with dysphasia, hemianopsia, motor weakness and ipsilateral sensory disturbances.[nature.com]
Somnolence
  • Case report A young Sudanese man with positive maternal history in respect of FHM developed strict left-sided throbbing headache with initial blurred vision and somnolence to transient coma followed by plegia of the right arm recurring at variable intervals[ispub.com]
Sinus Headache
  • Elsevier Health Sciences, ٠٣‏/٠٤‏/٢٠١٤ - 204 من الصفحات Patients present to physicians with headache or facial pain and are certain that it is a “sinus headache.[books.google.com]

Workup

Pericardial Effusion
  • Doppler transthoracic echocardiography revealed signs of severe pulmonary hypertension with an estimated systolic pulmonary artery pressure of 75 mmHg, right ventricular dilatation and hypertrophy, and mild pericardial effusion.[erj.ersjournals.com]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Her main areas of interest include pathophysiology, diagnosis and treatment of visceral pain and referred hyperalgesia, headache, musculoskeletal pain and fibromyalgia.[books.google.com]
  • Familial and sporadic hemiplegic migraine: diagnosis and treatment. Current treatment options in neurology, 15 (1), 13-27 PMID: 23203776 Pietrobon D (2007). Familial hemiplegic migraine.[brainblogger.com]

Prognosis

  • The prognosis of FHM tends to be good; however, establishing an individual accurate prognosis may be difficult. The variability of the natural history and prognosis as a function of different ATP1A2 mutations are well known.[link.springer.com]
  • It seems rational that expression of NKA might influence breast cancer prognosis. NKA is a significant integral membrane protein.[f1000research.com]

Etiology

  • Impaired P/Q-type calcium channel function is the etiology, and the mutation is again on CACNL1A(Ophoff et al, 1996). One of the numerous to count spinocerebellar ataxias, SCA6, is due to a tri-nucleotide repeat on this gene.[dizziness-and-balance.com]
  • The genetic etiology of SHM is not well established and only a few causative mutations in FHM1 and FHM2 genes have been identified in SHM patients. 14 , 31 Therefore, our findings suggest that the ATP1A2 gene is a good candidate for genetic testing in[nature.com]

Epidemiology

  • الصفحات المحددة الصفحة 112 الصفحة 61 الصفحة 84 الصفحة 83 الصفحة 86 المحتويات Comorbidity of epilepsy and migraine epidemiological considerations 1 Migraines pathophysiological mechanisms 21 What the epileptologist hasto know about the International Headache[books.google.com]
  • Epidemiology of headache in Europe. European journal of neurology : the official journal of the European Federation of Neurological Societies, 13 (4), 333-45 PMID: 16643310 Image via Evgeny Atamanenko / Shutterstock.[brainblogger.com]
  • Family and epidemiological studies further strengthen the genetic contribution to migraine and two recent observations gave new molecular insights in the disease.[journals.lww.com]
  • Comments : Epidemiological studies have shown that sporadic cases occur with approximately the same prevalence as familial cases.[healthcentral.com]
  • Epidemiology: The episodic ataxias are very rare. In our clinic database of mainly adult dizzy patients, containing roughly 12,000 distinct patients with dizziness, we have only 23 patients diagnosed as "episodic ataxia".[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology.[ncbi.nlm.nih.gov]
  • A further series of important chapters describe present knowledge of the pathophysiology of each specific type of headache and consider future directions.[books.google.com]
  • Internal and environmental factors such as hormonal, emotional, nutritional, physiological or weather changes may act as triggers, leading to the activation of several pathophysiological mechanisms.[brainblogger.com]

Prevention

  • Preventative Treatment : Prevention is especially important for those with Hemiplegic Migraine, because the symptoms are so severe and acute treatment options are limited.[migraineagain.com]
  • Preventive treatment: Given the severity of the symptoms and the contraindication of certain acute medications (triptans and ergotamines), preventive regimens (medications taken daily to prevent the attacks whether you have a headache or not) are considered[americanmigrainefoundation.org]
  • You may not be able to prevent hemiplegic headaches if they run in your family. However, you can take medicine to cut down on the number of headaches you get.[healthline.com]
  • CGRP inhibitors are a new class of preventive medicine for treating most common migraines, but indications suggest this treatment would not be effective for hemiplegic migraines.[webmd.com]
  • Preventive: Given the severity of the symptoms and the contraindication of abortive medications, preventive regimens are considered especially important in the treatment of Hemiplegic Migraine.[healthcentral.com]

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