Experiência de um único centro em distrofia muscular de cinturas do tipo autossômica recessiva: série de casos e revisão de literatura

Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Ducci, Renata Dal-Pra; Fustes, Otto Jesus Hernandez; Rodrigues, Paula Raquel do Vale Pascoal; Hrysay, Nyvia Milicio Coblinski; Arndt, Raquel Cristina; Werneck, Lineu Cesar; Scola, Rosana Herminia

Paulo José Lorenzoni

conceptualization

data curation

formal analysis

investigation

methodology

project administration

validation

writing of the original draft

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-4457-7771

Cláudia Suemi Kamoi Kay

investigation

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0003-0173-0809

Renata Dal-Pra Ducci

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-1673-5074

Otto Jesus Hernandez Fustes

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0003-0778-5376

Paula Raquel do Vale Pascoal Rodrigues

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-8024-0009

Nyvia Milicio Coblinski Hrysay

methodology

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-8167-0844

Raquel Cristina Arndt

methodology

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-3745-7595

Lineu Cesar Werneck

investigation

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0003-1921-1038

Rosana Herminia Scola Address for correspondence Rosana Hermínia Scola (email: rosana.scola@hc.ufpr.br).

formal analysis

funding acquisition

investigation

methodology

writing – review and editing

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.

https://orcid.org/0000-0002-3957-5317

Address for correspondence Rosana Hermínia Scola (email: rosana.scola@hc.ufpr.br).

Conflict of Interest

The authors have no conflict of interest to declare.

LGMD subtype		R1(2A)	R2 (2B)	R3–5 (2CDE)	R7 (2G)	R9 (2I)	R12 (2L)
Gene		CAPN3	DYSF	SGCA-B-G	TCAP	FKRP	ANO5
Patients (n)		6	6	3	4	3	1
Affected family member (n) ^* * Presence of family member with similar clinical characteristics but without definitive diagnosis;		3	3	3	1	2	0
Sex (male:female)		2:4	1:5	3:0	3:1	1:2	1:0
Age at onset ^* * Presence of family member with similar clinical characteristics but without definitive diagnosis; (years) ^ mean ± standard deviation if the calculation was allowed;		24.16 ± 10.83	25.16 ± 11.61	7.33 ± 4.04	8.75 ± 3.50	24.33 ± 12.89	29
Disease duration (years) ^ mean ± standard deviation if the calculation was allowed;		18.17 ± 11.41	21 ± 9.67	24.67 ± 11.55	14.25 ± 8.61	22.33 ± 26.08	15
Medical Research Council sumscore ^ mean ± standard deviation if the calculation was allowed;		42.66 ± 9.09	40.33 ± 15.16	42.66 ± 11.01	45.75 ± 13.57	47.33 ± 3.05	14
Clinical manifestation	Cramps	0	2	0	2	1	0
	Myalgia	0	2	0	2	1	0
	Asymmetric weakness	0	1	1	1	0	0
	Shoulder weakness	6	6	3	2	3	1
	Pelvic weakness	6	4	3	4	3	1
	Anterior leg weakness	0	4	0	2	0	0
	Posterior leg weakness	0	2	0	1	0	0
	Hand weakness	0	1	0	0	0	0
	Scapular atrophy	5	4	0	2	2	0
	Shoulder atrophy	5	4	3	2	2	1
	Scapular winging	4	2	3	3	2	0
	Pectoral atrophy	1	0	1	0	0	0
	Hip atrophy	3	1	2	3	2	0
	Thigh atrophy	3	1	2	3	2	1
	Leg atrophy	0	0	1	2	0	0
	Calf hypertrophy	4	1	2	2	3	0
	Lordosis	1	1	2	2	2	1
	Scoliosis	0	0	0	1	1	0
	Joint/tendon contractures	0	0	1	2	0	0
	Gowers maneuver	5	2	1	2	3	0
	Myopathic gait	5	2	1	1	2	0
Wheelchair-bound		1	2	2	1	0	1
Cardiac involvement		1	0	1	0	1	0
Respiratory involvement		0	1	0	0	0	0
Previous misdiagnosis of inflammatory myopathy		1	3	0	0	1	1
Maximum level fo creatine kinase (U/L) ^ mean ± standard deviation if the calculation was allowed;		3446.33 ± 4789.74	3736.66 ± 3225.61	20641 ± 29782.19	1176.25 ± 468.20	3727.33 ± 3288.13	517
Needle electromyography (n)	Normal	0	1	0	0	0	0
	Myopathic features	6	4	3	4	2	1
	Mixed features^* ***** concomitance of myopathic and denervation changes (‘neurogenic-like’);	0	1	0	0	1	0
	Myotonic discharge	0	1	0	0	1	0
Muscle biopsy features (n)	Type-1 fiber atrophy	0	1	1	0	1	1
	Type-2 fiber atrophy	1	0	0	0	1	0
	Type-1 fiber predominance	1	0	0	0	0	0
	Hypertrophy of type-1 fiber	0	0	1	0	0	0
	Hypertrophy of type-2 fiber	0	0	1	0	0	0
	Bordeline myopathic changes	0	0	0	1	0	0
	Chronic myopathy	3	1	1	2	0	0
	Active and chronic myopathy	1	0	1	0	1	0
	Myopathy with denervation	1	2	0	1	0	0
	Chronic denervation	0	1	0	0	1	0
	Lobulated/trabecular fiber	1	1	0	3	0	0
	Target (core-like) fiber	0	1	0	0	0	0
	Inflammatory infiltration	0	1	0	0	0	1
Genetic analysis (n)	Definitive	4	4	2	3	3	0
Genetic analysis (n)	Probable^** ****** only one pathogenic variant (diagnosis supported by other tests, such as histological analyses).	2	2	1	1	0	1

Gene	Status^## ## According ACMD classification.	DNA variant	Protein	Number of alleles
CAPN3	Pathogenic	c.328C > T	p.Arg110*	1
CAPN3	Pathogenic	c.550del	p.Thr184Argfs*36	1
CAPN3	VUS	c.680C > T	p.Ala227Val	1
CAPN3	Pathogenic	c.759_761delGAA	p.Lys254del	1
CAPN3	Pathogenic	c.1342C > T	p.Arg448Cys	1
CAPN3	VUS	c.1775G > A	p.Arg592Gln	1
CAPN3	Pathogenic	c.2242C > T	p.Arg748*	1
CAPN3	Pathogenic	c.2243G > A	p.Arg748Gln	2
CAPN3	Pathogenic	c.2362_2363delAGinsTCATCT	p.Arg788Serfs*14	1
DYSF	Pathogenic	c.265C > T	p.Arg89*	2
DYSF	Probably pathogenic	c.1163_1165dupCCG	p.Ala388dup	1
DYSF	VUS	c.2801C > T	p.Pro934Leu	1
DYSF	Pathogenic	c.2875C > T	p.Arg959Trp	1
DYSF	Pathogenic	c.2996G > A	p.Trp999*	1
DYSF	Pathogenic	c.3031 + 2T > C	p.(?)	1
DYSF	VUS	c.3280T > C	p.Trp1094Arg	1
DYSF	Pathogenic	c.3805G > T	p.Glu1269*	2
SGCA	VUS	c.350G > A	p.Arg117Gln	1
SGCB	Pathogenic	c.622–2A > G	p.(?)	1
SGCB	Pathogenic	c.341C > T	p.Ser114Phe	1
SGCG	Pathogenic	c.353C > G	p.Ser118*	1
SGCG	VUS	c.195 + 5G > A	p.(?)	1
TCAP	Pathogenic	c.157C > T	p.Gln53*	7
FKRP	Probably pathogenic	c.826C > A	p.Leu276Ile	4
FKRP	Pathogenic	c.898G > A	p.Val300Met	1
FKRP	Pathogenic	c.899T > C	p.Val300Ala	1
ANO5	VUS	c.1747G > A	p.Val583Ile	1

[1] Address for correspondence Rosana Hermínia Scola (email: rosana.scola@hc.ufpr.br).

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Experiência de um único centro em distrofia muscular de cinturas do tipo autossômica recessiva: série de casos e revisão de literatura

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