scholarly journals Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

2019 ◽  
Author(s):  
Tomoya Taminato ◽  
Madoka Mori-Yoshimura ◽  
Jun Miki ◽  
Ryogen Sasaki ◽  
Noriko Satoh ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Clinical Symptoms ◽  
Muscle Stiffness ◽  
Causative Mutation ◽  
Exercise Tests ◽  
Muscle Involvement ◽  
Paramyotonia Congenita ◽  
Fatty Replacement ◽  
The Family ◽  
History Of

Abstract Introduction Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

scholarly journals Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

2019 ◽  
Author(s):  
Madoka Mori-Yoshimura ◽  
Tomoya Taminato ◽  
Jun Miki ◽  
Ryogen Sasaki ◽  
Noriko Satoh ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Clinical Symptoms ◽  
Muscle Stiffness ◽  
Causative Mutation ◽  
Exercise Tests ◽  
Muscle Involvement ◽  
Paramyotonia Congenita ◽  
Fatty Replacement ◽  
The Family ◽  
History Of

Abstract Introduction: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation: We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions: PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

scholarly journals New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

2021 ◽  
Vol 12 ◽  
Author(s):  
Sophie Nicole ◽  
Philippe Lory
Keyword(s):  
Sodium Channel ◽  
Muscle Weakness ◽  
Muscle Force ◽  
Muscle Stiffness ◽  
Clinical Spectrum ◽  
Loss Of Function ◽  
Inherited Disorders ◽  
Paramyotonia Congenita ◽  
Α Subunit ◽  
Periodic Paralyses

The voltage-gated sodium channel Nav1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation. Supporting further this key role, mutations in SCN4A, the gene encoding the pore-forming α subunit of Nav1.4, are responsible for a clinical spectrum of human diseases ranging from muscle stiffness (sodium channel myotonia, SCM) to muscle weakness. For years, only dominantly-inherited diseases resulting from Nav1.4 gain of function (GoF) were known, i.e., non-dystrophic myotonia (delayed muscle relaxation due to myofiber hyperexcitability), paramyotonia congenita and hyperkalemic or hypokalemic periodic paralyses (episodic flaccid muscle weakness due to transient myofiber hypoexcitability). These last 5 years, SCN4A mutations inducing Nav1.4 loss of function (LoF) were identified as the cause of dominantly and recessively-inherited disorders with muscle weakness: periodic paralyses with hypokalemic attacks, congenital myasthenic syndromes and congenital myopathies. We propose to name this clinical spectrum sodium channel weakness (SCW) as the mirror of SCM. Nav1.4 LoF as a cause of permanent muscle weakness was quite unexpected as the Na+ current density in the sarcolemma is large, securing the ability to generate and propagate muscle action potentials. The properties of SCN4A LoF mutations are well documented at the channel level in cellular electrophysiological studies However, much less is known about the functional consequences of Nav1.4 LoF in skeletal myofibers with no available pertinent cell or animal models. Regarding the therapeutic issues for Nav1.4 channelopathies, former efforts were aimed at developing subtype-selective Nav channel antagonists to block myofiber hyperexcitability. Non-selective, Nav channel blockers are clinically efficient in SCM and paramyotonia congenita, whereas patient education and carbonic anhydrase inhibitors are helpful to prevent attacks in periodic paralyses. Developing therapeutic tools able to counteract Nav1.4 LoF in skeletal muscles is then a new challenge in the field of Nav channelopathies. Here, we review the current knowledge regarding Nav1.4 LoF and discuss the possible therapeutic strategies to be developed in order to improve muscle force in SCW.

scholarly journals Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

2018 ◽  
Vol 2018 ◽  
Author(s):  
Syed Ali Imran ◽  
Khaled A Aldahmani ◽  
Lynette Penney ◽  
Sidney E Croul ◽  
David B Clarke ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Stop Codon ◽  
Positive Family History ◽  
Receptor Protein ◽  
List Type ◽  
Aryl Hydrocarbon ◽  
The Family ◽  
Paternal Aunt ◽  
History Of ◽  
Secondary Hypogonadism

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions. Unusual, previously not described AIP variant with loss of the stop codon. Phenocopy may occur in families with a disease-causing germline mutation.

CLINICAL CORRELATES OF THE FAST AND THE SLOW SPIKE-WAVE ELECTROENCEPHALOGRAM

PEDIATRICS ◽  
1950 ◽  
Vol 5 (4) ◽  
pp. 626-644
Author(s):  
WILLIAM G. LENNOX ◽  
JEAN P. DAVIS
Keyword(s):  
Clinical Symptoms ◽  
Clinical Correlates ◽  
The Family ◽  
Slow Group ◽  
Immature Form ◽  
History Of ◽  
Unselected Group ◽  
History Of Epilepsy ◽  
Associated Abnormalities ◽  
Spike Wave

In order to test an hypothesis that slow spike and wave formations may be only the immature form of the 3/sec. dart and dome formation of "petite absence" and to learn more about the meaning of a dysrhythmia that consists of an alternation of wave frequency, a comparison was made of the clinical histories and examinations of 200 patients belonging to each group. The group with the slow pattern contained relatively more males; the patients were younger both when seizures began and at the time of examination, their history contained a greater variety of seizure phenomena and their EEGs more associated abnormalities. The evidence of brain damage that antedated seizures was much greater and the family history of epilepsy was somewhat less in the slow group as contrasted with the fast; and yet, heredity played as great a part in the slow group as in a large unselected group of "genetic" epileptics. Intelligence of the slow group was lower than that of the fast. Slow spike-hump discharges are more diverse in configuration and distribution, more often localized and solitary than dart-dome discharges. The slow form is less often identified with specific clinical symptoms, though in this group of children, 53% had a history of one or more of the petit mal quartette. Astatic (akinetic) falls or simple or massive myoclonic jerks may accompany solitary discharges. Massive jerks were confined to the very young. Of the infants, 55% had this form. Periods of sudden stillness, staring, sagging, small jerkings or mild tonicity, often without full loss of consciousness, may be the clinical correlates of serial discharges. Though less responsive to tridione® or other therapy than the faster variety, control of seizures and even of this peculiar spike-hump dysrhythmia may be possible.

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

1985 ◽  
Vol 54 (04) ◽  
pp. 744-745 ◽  
Author(s):  
R Vikydal ◽  
C Korninger ◽  
P A Kyrle ◽  
H Niessner ◽  
I Pabinger ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Antithrombin Iii ◽  
Positive Family History ◽  
Normal Range ◽  
The Family ◽  
History Of ◽  
Antithrombin Iii Deficiency ◽  
Recurrent Venous Thrombosis ◽  
Antithrombin Iii Activity ◽  
Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

Can a Narcissist Ever Marry?: James Fisher and The Uninvited Guest

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Brett Kahr
Keyword(s):  
Clinical Material ◽  
Couple Relationships ◽  
Cocktail Party ◽  
False Self ◽  
Winter's Tale ◽  
Pathological Narcissism ◽  
The Family ◽  
History Of ◽  
Marital Partners

Few books in the burgeoning field of couple psychoanalysis have garnered as much admiration as James Fisher's The Uninvited Guest: Emerging from Narcissism towards Marriage. In this memorial essay, the author pays tribute to the late Dr Fisher and to his perennial book which explores the ways in which pathological narcissism, among other factors, inhibit the development of spousal intimacy, often destroying partnerships entirely. The author describes the creative way in which Fisher drew upon great works of literature, most notably William Shakespeare's A Winter's Tale, and T. S. Eliot's The Cocktail Party, as well as long-forgotten clinical material from Fisher's predecessors at the Family Discussion Bureau (forerunner of the Tavistock Centre for Couple Relationships), in order to understand the ways in which marital partners struggle with false self couplings. The author assesses the importance of Fisher's contribution in the context of the history of couple psychoanalysis.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

Organization of restrictive quarantine measures to prevent especially dangerous infections

2020 ◽  
pp. 6-11
Author(s):  
Petr Ilyin
Keyword(s):  
Infectious Diseases ◽  
Clinical Symptoms ◽  
International Health ◽  
World Health ◽  
The World ◽  
History Of ◽  
Entire History ◽  
Health Organization ◽  
Former Ussr ◽  
Health Regulations

Especially dangerous infections (EDIs) belong to the conditionally labelled group of infectious diseases that pose an exceptional epidemic threat. They are highly contagious, rapidly spreading and capable of affecting wide sections of the population in the shortest possible time, they are characterized by the severity of clinical symptoms and high mortality rates. At the present stage, the term "especially dangerous infections" is used only in the territory of the countries of the former USSR, all over the world this concept is defined as "infectious diseases that pose an extreme threat to public health on an international scale." Over the entire history of human development, more people have died as a result of epidemics and pandemics than in all wars combined. The list of especially dangerous infections and measures to prevent their spread were fixed in the International Health Regulations (IHR), adopted at the 22nd session of the WHO's World Health Assembly on July 26, 1969. In 1970, at the 23rd session of the WHO's Assembly, typhus and relapsing fever were excluded from the list of quarantine infections. As amended in 1981, the list included only three diseases represented by plague, cholera and anthrax. However, now annual additions of new infections endemic to different parts of the earth to this list take place. To date, the World Health Organization (WHO) has already included more than 100 diseases in the list of especially dangerous infections.

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