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Schwartz-Jampel Syndrome

Schwartz–Jampel syndrome (SJS) is a rare disorder, characterized by the development of osteochondrodysplasia and myotonia. It is primarily inherited in an autosomal recessive pattern.


Presentation

Schwartz-Jampel syndrome, otherwise referred to as chondrodystrophic myotonia or myotonic myopathy, causes muscle hypertrophy, stiffness, and weakness at a very young age, usually either immediately after birth or within the first year of an infant's life [1].

Limb flexion is restricted and is usually the first sign for which parents seek medical care. Infants also display a delay in development of motor abilities : walking is achieved significantly later in comparison to healthy individuals. However, children affected by SJS eventually attain the ability to walk and become self-reliant.

At an older age, patients report considerable joint flexion limitations and stiffened muscles, a symptom that is particularly experienced in the quadriceps. The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck [2]. The outer appearance of individuals affected by SJS is also dysmorphic: blepharophimosis with blepharospasm, flattened facies, eyelid hypertrichosis, and micrognathia. Defective capital femoral epiphyses is another sign associated with Schwartz-Jampel syndrome [3]. As far as the cognitive development of these individuals is concerned, the majority of SJS patients display normal intelligence, although mental disabilities may occur in up to 20% of the cases. SJS patients with significantly high intelligence are thought to be nonexistent.

Depending primarily on the age of onset, SJS is further classified into two categories: SJS1 and SJS2. SJS type 1 produces the initial symptoms approximately during childhood, whereas SJS type 2 is a congenital and rare sub-type of Schwartz-Jampel syndrome [4]. Schwartz-Jampel syndrome type I is further divided into two sub-categories, IA and IB, with the latter manifesting earlier in the course of the patient's life with more severe symptoms.

Respiratory Distress
  • Death and respiratory distress have previously been reported in newborns and young children with SJS. We describe a patient with SJS and snoring in whom polysomnography demonstrated obstructive sleep apnea and hypoxia.[ncbi.nlm.nih.gov]
  • Abstract The Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by respiratory distress, hyperthermic episodes, and early lethality and radiologically by bowing of the long bones with internal cortical thickening and large metaphyses.[ncbi.nlm.nih.gov]
Snoring
  • We describe a patient with SJS and snoring in whom polysomnography demonstrated obstructive sleep apnea and hypoxia. Although tonsillectomy with laser palatoplasty significantly widened the oropharyngeal introitus, obstructive sleep apnea persisted.[ncbi.nlm.nih.gov]
Receding Chin
  • The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low hair-line), kyphoscoliosis, pigeon breast, severe contractures of the knee and[ncbi.nlm.nih.gov]
Myopathy
  • From Wikidata Jump to navigation Jump to search autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36 myotonic myopathy, dwarfism, chondrodystrophy[wikidata.org]
  • A muscle biopsy is usually compatible with a myopathy. Lastly, electromyography and nerve conduction studies have been employed to rule out the differential diagnosis, but their findings are usually normal.[symptoma.com]
  • The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature.[ncbi.nlm.nih.gov]
  • Schwartz-Jampel syndrome [shworts·jam′pəl] Etymology: Oscar Schwartz, American pediatrician, b. 1919; Robert Steven Jampel, American ophthalmologist, b. 1926 an autosomal-recessive disorder characterized by myotonic myopathy, dwarfism, abnormal narrowness[medical-dictionary.thefreedictionary.com]
  • "Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension[thepetitionsite.com]
Skeletal Dysplasia
  • dysplasia Burton syndrome myotonic chondrodystrophy SJS SCHWARTZ-JAMPEL SYNDROME, TYPE 1 Chondrodystrophic Myotonia Dysostosis enchondralis metaepiphysaria, Catel-Hempel type SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Sja Syndrome SJS1 Myotonic Myopathy,[wikidata.org]
  • Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia.[ncbi.nlm.nih.gov]
  • Schwartz-Jampel syndrome is a rare autosomal recessive disorder characterized by myotonia and skeletal dysplasia. Botulinum toxin A is emerging as a therapeutic option for patients with this syndrome.[ncbi.nlm.nih.gov]
  • The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature.[ncbi.nlm.nih.gov]
Muscle Weakness
  • Woman with Leg Weakness and Atrophic Muscle Fibers on Biopsy 554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with[books.google.com]
  • "Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension[thepetitionsite.com]
  • Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision).[diseaseinfosearch.org]
  • The rare condition is called Schwartz-Jampel syndrome (SJS) and it’s characterized by abnormalities of the skeletal muscles, including muscle weakness, development, and permanent bending of certain joints. To learn more, click here.[patientworthy.com]
  • Some of the abnormalities caused by the disorder include the following: Myotonic myopathy (muscle weakness and stiffness) Bone dysplasia (when the bones do not develop normally) Joint contractures (joints become fixed in place, restricting movement) Dwarfism[verywell.com]
Coxa Valga
  • The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com]
  • […] the following: Musculoskeletal problems Continuous spontaneous activity on an electromyogram Joint contractures Pectus carinatum (pigeon chest) Abnormal curvature of the vertebrae (scoliosis, kyphosis, lordosis) Hip dysplasia, including coxa vara and coxa[forgottendiseases.org]
  • valga 0002673 Coxa vara 0002812 Flat face Flat facial shape 0012368 Flexion contracture of toe 0005830 High palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture 0003273 Hyperlordosis Prominent swayback[rarediseases.info.nih.gov]
Coxa Vara
  • Skeletal and articular disorders consist chiefly of limitation of motion of the hips, wrist, toes, and spine, short vertebrae with brevicollis, fragmentation and flattening of femoral epiphyses, pectus carinatum, acetabular dysplasia, and coxa vara.[whonamedit.com]
  • They include the following: Musculoskeletal problems Continuous spontaneous activity on an electromyogram Joint contractures Pectus carinatum (pigeon chest) Abnormal curvature of the vertebrae (scoliosis, kyphosis, lordosis) Hip dysplasia, including coxa[forgottendiseases.org]
  • vara 0002812 Flat face Flat facial shape 0012368 Flexion contracture of toe 0005830 High palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[rarediseases.info.nih.gov]
Short Neck
  • The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com]
  • The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities.[advbiores.net]
  • Other manifestations Small mouth Low-set ears Puckered chin Short neck High-pitched or nasal voice Blepharospasm (sustained, forced closing of the eyelids) Ptosis of the eyelid Extra eyelashes Highly arched palate Myopia/nearsightedness In addition, SJS[forgottendiseases.org]
  • Additional symptoms of SJS may include: A short stature Flattened facial features, narrow corners of the eyes, and a small lower jaw Joint deformities such as short neck, outward curving of the spine (kyphosis), or protruding chest (pectus carinatum,[verywell.com]
  • neck Decreased length of neck 0000470 Shoulder flexion contracture 0003044 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 Spinal rigidity Reduced spine movement 0003306 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Weak[rarediseases.info.nih.gov]
Mandibular Prognathism
  • Sasiadek and Hanna Gerber, Genetic Factors Involved in Mandibular Prognathism, Journal of Craniofacial Surgery, 10.1097/SCS.0000000000003627, 28, 5, (e422-e431), (2017).[doi.org]
Hyporeflexia
  • He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus.[advbiores.net]
  • Coxa vara 0002812 Flat face Flat facial shape 0012368 Flexion contracture of toe 0005830 High palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[rarediseases.info.nih.gov]
Disturbed Gait
  • At the age 3-4 a disturbed gait appeared due to knee joint contractures and limited joint movements.[ncbi.nlm.nih.gov]
Excitement
  • In so doing, we have identified the first human mutations in HSPG2, which underscore the importance of perlecan not only in maintaining cartilage integrity but also in regulating muscle excitability.[ncbi.nlm.nih.gov]
  • Electroneuromyography showed normal nerve conduction, neuromuscular transmission, and compound nerve action potentials while multiple measures of peripheral nerve excitability along the nerve trunk did not detect changes.[ncbi.nlm.nih.gov]

Workup

A detailed medical history including the symptoms for which the parents initially sought medical advice is pivotal for the diagnosis of Schwartz-Jampel syndrome. Parents typically report a difficulty flexing an infant's joints, hypertrophic muscles and mobility issues. A careful clinical examination will reveal signs related to SJS, such as myotonia, kyphosis, joint flexion restriction, blepharospasm, coxa valga, hypertrichosis of the eyelids and a general difficulty to perform basic movements.

The clinical findings can be validated by imaging modalities, such as radiographs that will illustrate kyphosis or shorter femoral bones [5]. Imaging modalities, however, contribute little to the final diagnosis. Blood tests are also of limited use: mild augmentation of creatine kinase in the serum or aldolase may be detected, findings which do not clearly suggest SJS. Genetic testing is available, but not on a commercial basis. Families, should, therefore, be referred to specialty referral centers that research the disease's genetic basis.

No specific findings or abnormalities on histological examination have been noted in SJS. A muscle biopsy is usually compatible with a myopathy. Lastly, electromyography and nerve conduction studies have been employed to rule out the differential diagnosis, but their findings are usually normal [5] [6].

Treatment

  • Management and treatment Treatment of the myotonia is problematic but some studies have suggested that carbamazepine leads to improvement of symptoms. Prognosis The disease appears to stabilise after adolescence.[orpha.net]
  • We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic skeletal dysplasia of Schwartz-Jampel syndrome.[ncbi.nlm.nih.gov]
  • Application of BTX-A to orbicularis oculi muscle for the treatment of blepharospasm could be considered as an alternative to levator resection, and lateral canthopexy in Schwartz-Jampel syndrome.[ncbi.nlm.nih.gov]
  • We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth.[ncbi.nlm.nih.gov]
  • Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis The disease appears to stabilise after adolescence. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The disorder must be differentiated from the Stüve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis.[ncbi.nlm.nih.gov]
  • We suggest that within neonatal SJS there is a subgroup which manifests severe respiratory and feeding problems and has a poor prognosis. This report brings the total number of children with neonatal SJS reported from the UAE to 14.[ncbi.nlm.nih.gov]
  • Neurology Articles (Diagnosis, Treatment, Prognosis ... Neurology articles covering symptoms, diagnosis, staging, treatment, prognosis, and follow-up. Peer reviewed and up-to-date recommendations written by leading experts.[distant-science.gq]

Etiology

  • The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described.[ncbi.nlm.nih.gov]
  • Etiology The causative gene for SJS, HSPG2 (1p36), encodes perlecan, a major component of the cellular matrix. Diagnostic methods Electromyography reveals myotonia and the osteoarticular anomalies are visible on radiographs.[orpha.net]
  • 結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159.[cell.brc.riken.jp]
  • Paramyotonia congenita is an autosomal-dominant myotonic condition with at least two distinct genetic etiologies involving the sodium channel—a subunit (SCN4A) located at chromosome 17q35 and a muscle chloride channel (CLCN1) located at chromosome 7q35[ebrary.net]

Epidemiology

  • Summary Epidemiology Around 100 cases have been described in the literature so far. Clinical description The clinical manifestations appear soon after birth.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • The characterization of this mouse model will help to understand the pathophysiological mechanism leading to this multisystemic human disorder.[ncbi.nlm.nih.gov]
  • They also propose tools for its molecular diagnosis and provide new clues for the understanding of its pathophysiology. (c) 2006 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • Organized by disease, the new edition of this popular guide has been completely revised and updated to reflect the latest information on definition, current pathophysiology, significant pre-, intra-, and postoperative factors of the disease process, anesthetic[books.google.com]
  • Fukui H, Yoshioka A, Mikami S, Takase T, Fujimura Y, Takahashi Y, Nishino M, Iwagaki K (1979) Pathophysiology of von Willebrand's disease: qualitative and quantitative analysis of von Willebrand protein.[link.springer.com]
  • General Pathology Pathophysiology Typically, retinal detachment is associated with low IOP, as a result of increase outflow by active pumping of fluid through the exposed retinal pigment epithelium [1] .[eyewiki.aao.org]

Prevention

  • We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic skeletal dysplasia of Schwartz-Jampel syndrome.[ncbi.nlm.nih.gov]
  • Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.[ncbi.nlm.nih.gov]
  • At the least, the authors waited for a six-month interval to prevent development of sensitivity to BTX-A in patients.[ncbi.nlm.nih.gov]
  • Ben had his 23rd surgery in November 2011, when metal plates were screwed into the bones above and below each of his knees, in the hope that as he grows, these plates will help prevent his bones from growing inward (knockneed) and more straight.[blogs.bu.edu]

References

Article

  1. Mallineni S, Yiu C. Schwartz-Jampel syndrome: a review of the literature and case report. Special Care in Dentistry. June 2012; 32 (3): 105–111.
  2. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. 1962 Jul; 68:52-7.
  3. Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet 1987;27:799–805.
  4. Snook RJ, Pascuzzi RM. Schwartz-Jampel Syndrome. NORD Guide to Rare Disorders. Philadelphia. 2003;586-87.
  5. Sadanandavalli-Retnaswami C, Issac TG, Gayathri N, Shivaram S. Schwartz–Jampel syndrome. J Pediatr Neurosci. Apr-Jun 2015; 10(2):169-171.
  6. Regalo SC, Vitti M, Semprini M, et al. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. Electromyogr Clin Neurophysiol. 2005 Apr-May; 45(3):183-9.

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Last updated: 2019-07-11 20:38