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.

• Dysphagia

  […] associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia [orphananesthesia.eu]

• Microstomia

  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]

  The combination of skeletal and muscular abnormalities may result in oro‐dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts [doi.org]

  Examination revealed diagnostic features such as a short stature, dysmorphic facies, fixed facial expression, pursed lips, microstomia micrognathia, low-set ears, short neck, and pes planus [Figure 1]. [amhsjournal.org]

• 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]

  In cases of myotonic myopathy, an EMG may demonstrate continuous electrical activity within muscle fibers, even while at rest. [rarediseases.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]

  Keywords Schwartz-Jampel syndrome - chondrodystrophic myotonia - myotonic myopathy [thieme-connect.com]

• Muscle Weakness

  […] with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An Older 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 [books.google.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). [globalgenes.org]

  "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]

  It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. [genome.jp]

  […] to relax muscles, increased muscle size, and muscle weakness Characteristic facial features, including a “fixed” expression, a small, puckered mouth, and narrow eye openings, blinking, or eyelid spasms Some less common symptoms of Schwartz-Jampel syndrome [patientworthy.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]

  valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability [mousephenotype.org]

  […] vara and coxa valga Deformities of the fingers Clubfoot and/or flat feet Osteoporosis Both muscle hypertrophy and atrophy Chondrodystrophy (abnormalities of the cartilage) Pigeon chest and other deformities in SJS are secondary to myotonia and are often [forgottendiseases.org]

  He also had a short stature for age and several skeletal deformities including kyphosis, coxa valga, significant limitations of joints range of motion including fixed contractures of hips, knees and elbows [Figure 1]b. [advbiores.net]

  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

  […] valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability [mousephenotype.org]

  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]

  vara and coxa valga Deformities of the fingers Clubfoot and/or flat feet Osteoporosis Both muscle hypertrophy and atrophy Chondrodystrophy (abnormalities of the cartilage) Pigeon chest and other deformities in SJS are secondary to myotonia and are often [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]

• Lordosis

  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]

  […] set ears, high arched palate, long philtrum, and a pinched upturned nose.[4],[5] Mild-to-moderate skeletal deformities in SJS 1A include fixed contractures at elbow, knee, and ankle; metaphyseal dysplasia at hip and knee; kyphoscoliosis with lumbar lordosis [neurologyindia.com]

  […] muscle hypertrophy, and continuous muscle fiber activity. [2] They have slow movements with arms semi-flexed, toe walking in addition to difficulty in opening the mouth, mild kyphosis, contractures at elbow, spine, pelvis, metaphyseal deformities, lumbar lordosis [pediatricneurosciences.com]

  Spine shows kyphoscoliosis, lumbar lordosis, platyspondyly and cleft vertebrae. [ispub.com]

  He had short height and low weight for age, bowed limbs, marked lumbar lordosis and umbilical hernia. [scielo.br]

• 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 main signs and symptoms of Schwartz-Jampel syndrome include the following: Short stature Bone abnormalities, such as short neck, outward-bowed chest, curved spine, hip deformity, and osteoporosis Joint contractures Muscle abnormalities, such as inability [patientworthy.com]

  neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist flexion contracture Associated Genes HSPG2 (Withdrawn symbols: PRCAN, SJS1, perlecan [mousephenotype.org]

  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]

  Features include facial malformations (microstomia, micrognathia, retrognathia, blepharophimosis, short palpebral fissures, telecanthus, sad “fixed” facies, low-set ears, short neck), and musculoskeletal signs (myopathy, myotonia, muscular hypertrophy [accessanesthesiology.mhmedical.com]

• Onset in First Months of Life

  Onset within first month of life with choking on cold fluids and mave have hip dislocation. Probably autosomal recessive inheritance. One author says dominant. We thank Andrey Azov for information submitted. Bibliography L. M. Pinto, J. S. [whonamedit.com]

• Hyporeflexia

  Congenital hip dislocation ; Coronal cleft vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia [mousephenotype.org]

  Mental retardation (20%) and areflexia/hyporeflexia are described. [accessanesthesiology.mhmedical.com]

  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]

• Abnormal Gait

  0003457 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more [rarediseases.info.nih.gov]

• Waddling Gait

  Patients have a waddling gait and frequently adopt a crouched stance because of joint stiffness. [bmcneurol.biomedcentral.com]

• Gowers Sign

  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 [neurologyindia.com]

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].

• Delayed Bone Age

  bone age, epiphyseal anomaly, kyphosis, scoliosis, pectus carinatum, abnormal vertebral size/shape, anterior bowing of the long bones). [accessanesthesiology.mhmedical.com]

  […] and blepharospasm in 32.5%. [3] Skeletal features include spinal deformities, fragmenting of femoral epiphysis, widened metaphysis, joint contractures, osteoporosis and delayed bone age. [4] Other less common reported features include high pitched voice [advbiores.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]

Standard Therapies Treatment The treatment of SJS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Medical treatment with muscle relaxants and antiepileptic drugs, such as carbamazepine, phenytoin, or procainamide, aimed to alleviate myotonia has limited usage, although early initiation of treatment may limit the extent of disability. [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]

Prognosis The disease appears to stabilise after adolescence. The documents contained in this web site are presented for information purposes only. [orpha.net]

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]

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

The characterization of this mouse model will help to understand the pathophysiological mechanism leading to this multisystemic human disorder. [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]

[…] some authorities not to be fully sensitive in children aged <10 years.[3] It should also be noted that Parness et al.[4] after carrying out a detailed review of the physiology of muscle excitability and excitation–contraction coupling, as well as the pathophysiology [saudija.org]

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]

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]

Physicians may regularly monitor affected individuals and recommend preventive measures for those who may be prone to respiratory infections. [rarediseases.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

She was discharged home on nasogastric tube feeds with advice to prevent aspiration of feeds and dehydration. [ispub.com]

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.