Faculty Information - ISHIGAKI Keiko

（Last updated : 2025-05-08 09:37:57）

ISHIGAKI Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Associate Professor

■ Books

1.	Translation	Study of Intraventricular Cerliponase Alfa for CLN2 Disease 2020/01
2.	Chapter contribution	Fukuyama congenital muscular dystrophy:Clinical aspects, Translational Research in Muscular Dystrophy 2018/03/31
3.	Translation	Atopic dermatitis「Pathophysiology made Incredibly Visual!」 2012/03/10

■ Published papers

1.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/04/01
2.	Review article	Neuromuscular disorders -Childhood-onset metabolic myopathy,juvenile myasthenia gravis 2025/03/25
3.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
4.	Original article	Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy 2025/01
5.	Original article	Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications 2024/12/17
6.	Original article	Cross-sectional Study of the Association between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy. 2024/11
7.	Original article	Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy 2024/07
8.	Original article	Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy. 2024/07
9.	Original article	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
10.	Review article	[Treatment of Juvenile Myasthenia Gravis] 2024/06
11.	Original article	The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy 2024/01/23
12.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
13.	Original article	Natural history of Becker muscular dystrophy: a multicenter study of 225 patients 2023/12
14.	Review article	Fukuyama congenital muscular dystrophy 2022/12/23
15.	Original article	Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts 2022/05
16.	Review article	Congenital Form and Genetics of Myotonic Dystrophy Type 1 2022/02/18
17.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
18.	Original article	Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy 2021/10/22
19.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
20.	Original article	Study of care practices for patients with myotonic dystrophy in Japan —Nationwide patient survey 2020/02/01
21.	Original article	Study of medical practices for patients with myotonic dystrophy in Japan —Nationwide specialist survey 2020/02/01
22.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
23.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
24.	Case report	National registry of patients with Fukuyama congenital muscular dystrophy in Japan. 2018/10
25.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
26.	Original article	Pneumothorax in patients with severe combined immunodeficiency 2014/08
27.	Original article	Congenital fiber type disproportion myopathy caused by LMNA mutations 2014/05
28.	Original article	Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits 2014/01
29.	Case report	A casse of gastric wall perforation associated with nasogastric intubation in Fukuyama type congenital muscular dystrophy. 2013/04
30.	Case report	Different Responses to Enzyme Replacement Therapy in Two Patients with Childhood-onset Pompe Disease 2013/01
31.	Original article	Identification of a Duplication Breakpoint in the DMD Gene Using Array Comparative Genomic Hybridization 2013/01
32.	Original article	Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy 2013/01
33.	Original article	Long-term and Low-dose Steroid Therapy for Cardiomyopathy in Duchenne Muscular Dystrophy Patients 2013/01
34.	Original article	Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. 2012/04
35.	Original article	Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease 2012/02
36.	Original article	High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease 2012/02
37.	Original article	Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 2011/11
38.	Original article	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. 2010/10
39.	Original article	Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis 2009/09
40.	Original article	Identification of severe combined immunodeficency by T-cell receptor excision circles quantification using neonatal guthrie guthrie cards 2009/07/21
41.	Original article	Modified Atkins diet therapy for a case with glucose transporter type1 deficiency syndrome. 2008
42.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
43.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
44.	Original article	Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy 2006/08
45.	Original article	Creatin monohydrate therapy in a Leigh syndrome patient with A8344G mutation 2006
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■ Academic conference presentation

1.	Clinical aspects of Fukuyama congenital muscular dystrophy （Speech，Panelist at Symposium/Workshop (Other)） 2013/06/02
2.	Pompe disease Diagnosis and Management Guideline for Japanese （Speech，General） 2013/06/15
3.	Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2013/10/02
4.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （Poster notice，General） 2024/10/12
5.	The diagnsis and treatment of treatable childhood-onset neuromuscular diseases （Speech，Panelist at Symposium/Workshop (Appointed)） 2024/09/14
6.	A Phase 1 Study of Antisense Oligonucleotide NS-035 in Patients with Fukuyama Congenital Muscular Dystrophy （Speech，General） 2024/09/13
7.	A real-world survey on the treatment patterns and neurologist treatment satisfaction for Duchenne muscular dystrophy patients in Japan （Poster notice，General） 2024/09/13
8.	Multidisciplinay Approach to Muscular Dystrophy Management Motor Function Assessment in the Treatment of Muscular Dystrophy （Speech，Panelist at Symposium/Workshop (Appointed)） 2024/09/13
9.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy （Speech，General） 2024/06/01
10.	Notes on using the guidelines of juvenile myasthenia gravis （Speech，Panelist at Symposium/Workshop (Appointed)） 2024/05/31
11.	Patient Registry and Therapeutic Development for Fukuyama Congenital Muscular Dystrophy （Speech，Panelist at Symposium/Workshop (Appointed)） 2024/05/30
12.	Survey of COVID-19-affected neuromuscular disease patients in Japan （Speech，General） 2024/05/30
13.	Complications in patients with congenital myotonic dystrophy: data from a nationwide myotonic dystrophy registry. （Poster notice，General） 2024/04/10
14.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. （Poster notice，General） 2024/03/15
15.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （Poster notice，General） 2023/10/14
16.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) （Poster notice，General） 2023/10/06
17.	Sleep disorders in Fukuyama congenital muscular distrophy （Speech，General） 2023/05/27
18.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) （Speech，General） 2023/05/27
19.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance （Poster notice，General） 2023/05/26
20.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease （Speech，General） 2023/05/26
21.	An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy （Speech，General） 2023/05/25
22.	Treaatment of Childhood Myasthenia Gravis:Experiences and Messages （Speech，Panelist at Symposium/Workshop (Appointed)） 2023/05/25
23.	Treaatment Strategies for childhood-onset myasthenia gravis ーMessage from MG Practice Guidelines 2022ー（Speech，Panelist at Symposium/Workshop (Appointed)） 2023/05/25
24.	Basics of Skeletal Muscle Imaging and how to use it （Speech，Panelist at Symposium/Workshop (Appointed)） 2023/05/24
25.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise （Poster notice，General） 2023/04/16
26.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2023/04/16
27.	Transition to New-generation Enzyme Replacement Therapy for Pompe disease in Japan （Speech，Panelist at Symposium/Workshop (Appointed)） 2023/03/31
28.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation （Speech，General） 2022/12/17
29.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2022/10/14
30.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/08/27
31.	Practical diagnosis and therapeutic development of treatable neuromuscular diseases ーPompe diseaseー（Speech，Special/Invited Lecture） 2022/06/04
32.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/06/03
33.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) （Speech，General） 2022/06/03
34.	Efficacy of long-term TRH therapy in a patient with juvenile Alexander disease （Poster notice，General） 2022/06/03
35.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD （Speech，General） 2022/06/03
36.	Recent research of new therapeutics for patients with Fukuyama congenital muscular dystrophy （Speech，Panelist at Symposium/Workshop (Appointed)） 2022/06/03
37.	The technique in making diagnosis of treatable neuromuromuscular diseases in dsily clinical practice （Speech，Panelist at Symposium/Workshop (Appointed)） 2022/04/16
38.	Current status of genetic medicine for myotonic dystrophy: A Survey of medical geneticists and Liaison Council （Poster notice，General） 2021/10/15
39.	Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebllar atrophy （Poster notice，General） 2021/10/14
40.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/08/28
41.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness （Poster notice，General） 2021/05/29
42.	Case of Thymectomy in a pediatric patient with Myasthenia Gravis （Poster notice，General） 2021/05/29
43.	My choice for medical research ーTo bridge basic and clinical research fieldsー（Speech，Panelist at Symposium/Workshop (Appointed)） 2021/05/29
44.	Correlation between BNP and NT-proBNP in muscular dystrophy （Speech，General） 2021/05/28
45.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2021/05/28
46.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/05/28
47.	The chaiienges of gene therapy in clinical settings （Speech，Panelist at Symposium/Workshop (Appointed)） 2021/05/28
48.	Development of new therapeutic strategies and second-generation enzyme replacement therapy for Pompe diseasa （Speech，Panelist at Symposium/Workshop (Appointed)） 2021/05/27
49.	Features of patients with treatable neuromuscular diseases as images （Speech，Special/Invited Lecture） 2021/05/27
50.	Early diagnosis and assessment of Duchenne muscular dystrophy （Speech，Panelist at Symposium/Workshop (Appointed)） 2021/04/16
51.	Early diagnosis and adequate care of respiratory muscle involvement in Neuromuscular diseases （Speech，Panelist at Symposium/Workshop (Appointed)） 2020/09/30
52.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （Poster notice，General） 2020/08/19
53.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy （Speech，General） 2020/08/19
54.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients （Speech，General） 2020/08/19
55.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance （Speech，General） 2020/08/19
56.	Recent advances in skeletal muscle imaging for neuromuscular diseases （Speech，Panelist at Symposium/Workshop (Appointed)） 2020/08/18
57.	The pitfalls of diagnosis for childhood-onset muscular diseases （Speech，Panelist at Symposium/Workshop (Appointed)） 2020/08/18
58.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry （Poster notice，General） 2019/10/04
59.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Poster notice，General） 2019/10/04
60.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan （Poster notice，General） 2019/10/02
61.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies （Poster notice，General） 2019/10/02
62.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2019/07/13
63.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy （Speech，General） 2019/06/01
64.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
65.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
66.	Toward an ideal transition system for patients with hereditary neuromuscuiar diseases from pediatric to adult care （Speech，Panelist at Symposium/Workshop (Appointed)） 2019/05/31
67.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
68.	Challenging cases II （Speech，Panelist at Symposium/Workshop (Appointed)） 2018/09/15
69.	Fukuyama congenital muscular dystrophy. （Speech，Panelist at Symposium/Workshop (Appointed)） 2018/06/15
70.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV （Speech，General） 2018/06/02
71.	Care and prevention of foot disorders in Bethelm myopathy patients （Poster notice，General） 2018/06/01
72.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease （Speech，Special/Invited Lecture） 2018/06/01
73.	Recent progress in congenital muscular dystrophy （Speech，Panelist at Symposium/Workshop (Appointed)） 2018/06/01
74.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy （Speech，General） 2018/05/31
75.	Support for patients with neuromuscular disorders in the transition from pediatric to adult care （Poster notice，Panelist at Symposium/Workshop (Appointed)） 2018/05/31
76.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family （Speech，General） 2018/05/31
77.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy （Speech，General） 2017/10/14
78.	Persistent HyperCKemia-Just watch and wait? What is theoptimal diagnostic approach to hyper CK emia? （Speech，Panelist at Symposium/Workshop (Appointed)） 2017/06/15
79.	A Japanese nationwide survey on congenital myotonic dystrophy （Poster notice，General） 2017/05/13
80.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study （Poster notice，General） 2017/05/13
81.	Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2017/05/13
82.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy （Poster notice，General） 2017/05/13
83.	Advances in skeletal muscular imaging as diagnostic tools for neuromuscular diseases （Speech，Panelist at Symposium/Workshop (Appointed)） 2016/06/05
84.	The technique in making a diagnosis of myopathy in daily clinical practice （Speech，Panelist at Symposium/Workshop (Appointed)） 2016/06/04
85.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients （Speech，General） 2016/06/03
86.	Diagnosis and prognosis of the neurometabolic diseases among our department （Poster notice，General） 2016/06/03
87.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan （Poster notice，General） 2016/06/03
88.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care （Poster notice，General） 2016/06/03
89.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy （Speech，General） 2016/06/03
90.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy （Poster notice，General） 2016/06/03
91.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
92.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
93.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
94.	A new index of muscle development and disease progression for the pediatric patients with Duchenne muscular dystrophy, using bioelectrical impedance analysis: An observation study （Poster notice，General） 2014/10/08
95.	A new index of muscle development and disease progression for the pediatric patients with Fukuyama congenital muscular dystrophy, using bioelectrical impedance analysis; an observation study （Poster notice，General） 2014/10/08
96.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory （Poster notice，General） 2014/10/07
97.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT （Poster notice，General） 2014/09/27
98.	Non-classic IOPD ~Non-classic IOPD or severe childhood-onset PD?~ （Speech，Special/Invited Lecture） 2014/05/17
99.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations （Poster notice，General） 2013/11/06
100.	Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2013/10/02
101.	Steroid Treatment for exacerbation of muscle weakness after viral infection in Fukuyama congenital muscular dystrophy （Poster notice，General） 2013/10/02
102.	Difficult case for consultation in Japan （Speech，General） 2013/06/16
103.	Fiber type disproportion caused by LMNA mutations （Poster notice，General） 2012/10/09
104.	Low-dose steroid therapy for cardiomyopathy in Duchenne Muscular Dystrophy patients （Poster notice，General） 2012/10/09
105.	Scoliosis in Fukuyama congenital muscular dystrophy(FCMD) patients （Poster notice，General） 2012/10/09
106.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. （Poster notice，General） 2012/09/07
107.	Skeleta muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy (ERT) （Poster notice，General） 2012/09/07
108.	Pompe Disease Profile in Japan （Speech，Panelist at Symposium/Workshop (Appointed)） 2012/06/24
109.	Skeletal Muscle CT images in a family with hypokalemic periodic paralysis showing variable muscle involvement （Poster notice，General） 2012/05/31
110.	Treatable Rare Diseases should not be Overlooked 3. Pompe Disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2012/04/21
111.	Efficacy of low-dose steroid therapy for scoliosis in patients with Duchenne muscular dystrophy （Poster notice，General） 2011/10/21
112.	Longitudinal study of skeletal muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy(ERT) （Poster notice，General） 2011/10/20
113.	Refractory and severe status epileptics in a patient with ring chromosome 20 syndrome （Poster notice，General） 2011/10/06
114.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. （Speech，General） 2011/09/07
115.	Selection of isotonic saline as initial parenteral fluid therapy for children with either of high fever, vomiting and dyspnea （Speech，General） 2011/06/02
116.	High density of skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacules in childhood-onset Pompe disease （Speech，General） 2010/11/19
117.	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation （Speech，General） 2010/10/23
118.	Severe muscle damage following viral infection in patients with Fukuyama congental muscular dystrophy （Speech，Panelist at Symposium/Workshop (Other)） 2010/10/23
119.	Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2010/10/12
120.	Severe muscle damage following viral infection in patients with Fukuyama type congenital muscular dystrophy(FCMD) （Poster notice，General） 2010/10/12
121.	The efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease over two years （Speech，Panelist at Symposium/Workshop (Appointed)） 2009/10/11
122.	Specific finding of high-density changes on skeletal muscle CT scan in childhood-onset Pompe disease （General） 2009/09/25
123.	High density on skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2009/09/10
124.	Congenital myasthenic syndrome in Japan （Speech，Panelist at Symposium/Workshop (Appointed)） 2007/12/15
125.	Fukuyama congenital muscular dystrophy: Rhabdomyolysis induced by viral infection. （Speech，Panelist at Symposium/Workshop (Appointed)） 2007/12/15
126.	initial efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2007/11/29
127.	The utility of skeletal muscle CT scan in childhood-onset Pompe disease （Poster notice，General） 2007/10/18
128.	The First Japanese Patient with Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency （Speech，General） 2007/01/24
129.	Congenital myasthenic syndrome caused by decreased receptor channel openings due to novel mutation in the nicotinic acetylcholine receptor epsilon-subunit （Speech，General） 2005/09/28
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■ Education

1.	1998/04～2002/01	〔Doctoral course〕〔Doctorial Course〕 Pediatrics, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
2.	1992/04～1998/03	Faculty of Medicine, Tokyo Women's Medical University, Graduated,