Clinical aspects of patients with sarcoglycanopathies
                    under steroids therapy

Albuquerque, Marco A. V.; Abath-Neto, Osório; Maximino, Jéssica R.; Chadi, Gerson; Zanoteli, Edmar; Reed, Umbertina C.

doi:10.1590/0004-282X20140126

Brasil

home Sumário navigate_before Anterior Atual Seguinte navigate_next

home Sumário

Articles • Arq. Neuro-Psiquiatr. 72 (10) • Oct 2014 • https://doi.org/10.1590/0004-282X20140126 linkcopy

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Aspectos clínicos de pacientes com sarcoglicanopatias sob efeito de corticoterapia

SCIMAGO INSTITUTIONS RANKINGS

Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available.

Objective To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year.

Method Patient files were retrospectively analyzed for steroid use.

Results Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed.

Conclusions No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.

steroids; limb-girdle muscular dystrophy; sarcoglycan proteins; myopathy

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6
Sex	F	F	F	F	F	F
Consanguinity	No	No	No	No	No	No
Family history	No	No	Yes	No	No	Yes
Age at onset	5y	6y	9y	4y	10y	5y
First symptoms	Frequent falls	Frequent falls	Difficulty climbing stairs	Frequent falls	Difficulty climbing stairs	Difficulty rising from the floor
Calf hypertrophy	Yes	No	Yes	No	No	No
Scoliosis	Yes	Yes	No	No	No	No
Joint contractures	+	-	+	+	-	+
Scapula winging	+	+	+	+	+	+
Molecular study	-	-	c.657delC SGCD	c.299T>A SGCB	-	-

	Patient 1		Patient 2		Patient 3		Patient 4		Patient 5		Patient 6
	Pre	Post	Pre	Post	Pre	Post	Pre	Post	Pre	Post	Pre	Post
Proximal upper extremity strength	2	3	2	3	4	3	4	4	3	3	4	4
Distal upper extremity strength	4	4	3	4	5	3	4	4	4	4	4	4
Proximal lower extremity strength	2	3	2	2	4	3	4	3	2	2	3	3
Distal lower extremity strength	3	3	3	3	5	3	4	4	4	3	4	4
FVC (% predicted)	68%	97%	73%	68%	70%	77%	40%	67,7%	57%	52%	77%	80%
Echo (FE)	69%	71%	44%	57%	69%	61%	65%	65%	55%	61%	65%	67%
Treatment onset (y)	13		13		14		10		11		11
Treatment duration (mo)	48		24		12		12		12		24
Loss of ambulation	No		No		No		No		No		No

vertical_align_top file_download show_chart

more_horizclose
- image
- translate
- link
- article
- vertical_align_top
- file_download
- show_chart
- image
- translate
- link
- article

location_on

Academia Brasileira de Neurologia - ABNEURO R. Vergueiro, 1353 sl.1404 - Ed. Top Towers Offices Torre Norte, 04101-000 São Paulo SP Brazil, Tel.: +55 11 5084-9463 | +55 11 5083-3876 - São Paulo - SP - Brazil
E-mail: revista.arquivos@abneuro.org

rss_feed Acompanhe os números deste periódico no seu leitor de RSS

Acessibilidade / Reportar erro

[1] Y: years; mo: months.