Schwartz jampel syndrome how to#

Myotonia congenita can either be autosomal dominant (Thomsen disease) or autosomal recessive (Becker disease). Defect in perlecan is known to cause chondrodysplasia, but the exact pathophysiology for myotonia in SJS 1A is uncertain. SJS 1A is due to mutations in HSPG2 gene (located on chromosome 1p36.12, which encodes perlecan, a component of basement membrane). Based on the clinical and genetic analysis, a final diagnosis of SJS 1A was considered.įigure 1: (a) Image of Index child showing no dysmorphism (b) Family Pedigreeīoth SJS 1A and myotonia congenita are important non-dystrophic causes of myotonia in childhood.

Genetic analysis of reported variant for parents and siblings could not be done due to affordability issues. Sanger sequencing further confirmed the pathogenicity. Targeted next-generation sequencing for myotonia panel revealed a previously unreported compound heterozygous mutation in Heparan Sulfate Proteoglycan 2 ( HSPG2) gene, intronic variants and. Electromyography in vastus lateralis confirmed the presence of electrical myotonia with a characteristic dive-bomber sound. Nerve conduction study and skeletal survey were normal. Electrocardiogram, echo, and thyroid functions were normal. Investigations revealed mildly elevated creatine phosphokinase 720 U/L (26-308). A clinical possibility of Becker variant of myotonia congenita was considered and all were initiated on oxcarbazepine. There was no evidence of dysmorphism in siblings, but they had clinical myotonia. On examination, he had normal anthropometry, no dysmorphism, generalized muscle hypertrophy with Herculean appearance, handgrip, eyelid and percussion myotonia, positive warm up phenomenon, Gowers' sign, and proximal weakness with diminished reflexes a. He had two younger siblings 13-year-old boy with generalized muscle stiffness and 4-year-old girl with handgrip difficulties. He was first born to a third-degree healthy consanguineous couple with an uneventful perinatal period. No history of diurnal fluctuations was present. Symptoms were not aggravated on exposure to cold, stress, or fever. Improvement of stiffness was noted on performing the repeated activity. The authors report a genetically confirmed case of SJS 1A in a 15-year-old boy manifesting only as isolated muscle stiffness mimicking myotonia congenita.Ī 15-year-old boy presented to us with progressive difficulty in running, frequent falls in an uneven surface, and initial hesitancy in getting up from prolonged sitting posture noted from 10 years of age.

Schwartz–Jampel syndrome (SJS) is a rare autosomal recessively an inherited congenital myotonia-like syndrome characterized by distinctive facial features, skeletal deformities, and muscle stiffness. Schwartz–Jampel Syndrome Mimicking Myotonia Congenita.

Schwartz jampel syndrome how to#

How to cite this URL: Padmanabha H, Mathew T, Manjusha T. How to cite this article: Padmanabha H, Mathew T, Manjusha T.