Włodzisław Kuliński1, 2, Mateusz Burak1, Agata Michalska1




Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the perlecan-encoding gene HSPG2. Its symptoms include muscular stiffness and hypertrophy. The aim of the study was to analyse the clinical presentation as well as the physical therapy and rehabilitation in a patient with SJS. A 20-year-old male patient with SJS was followed up by the authors for the past 3 years. The paper assesses the physical therapy and rehabilitation conducted at home and presents the possibilities of an extended programme that can be implemented at the multi-field Division of Physical Medicine. Patients with SJS represent an extremely difficult clinical and therapeutic problem.



Zespół Schwartza-Jampela (SJS) to rzadka choroba genetyczna charakteryzująca się miotonią i dysplazją kostną. Choroba dziedziczona jest autosomalnie recesywnie i spowodowana mutacjami w genie kodującym perlekan HSPG2. Wśród objawów przeważają sztywność mięśni i hipertrofia mięśniowa. Celem pracy była analiza obrazu klinicznego oraz postępowania fizykalno-usprawniającego u chorego z SJS. Chory, lat 20, z zespołem SJS był obserwowany przez autorów przez ostatnie 3 lata. W pracy oceniono postępowanie fizykalno-usprawniające prowadzone w warunkach domowych oraz przedstawiono możliwości rozszerzonego programu do realizowania w warunkach wieloprofilowego Zakładu Medycyny Fizykalnej. Przypadek zaprezentowano ze względu na to, że chorzy z SJS stanowią bardzo trudny problem kliniczny i leczniczy.


Wiad Lek 2018, 71, 7, -1432



Schwartz-Jampel syndrome is a rare genetic disorder characterised by myotonia and bone dysplasia. Its phenotype is not homogeneous as there are two types of the syndrome. They are both inherited as an autosomal recessive trait and differ in terms of symptom severity [3, 4]. The incidence of SJS is unknown and its influence on the length of life has not been clearly determined; the patients’ lives can be affected by the discomfort associated with muscular stiffness and eyelid spasms. Skeletal anomalies and physical deformities may contribute to depression. SJS is found both in women and men irrespective of their race. The syndrome is results from mutations in the perlecan-encoding gene HSPG2 at 1p36.1 [1−6].

The main clinical symptoms include muscular stiffness and muscular hypertrophy. These dysmorphic features are already visible in newborns. Muscle weakness causes a motor development delay while muscle stiffness increases with age and hinders gait, mainly due to limited knee flexion. The following features are also found in the patients: narrowed palpebral fissures, blepharospasms, flattened face, short neck, kyphotic chest, and long bone abnormalities [7−13].


This patient with Schwartz-Jampel syndrome was 20 years old and would soon be taking his secondary school-leaving exam. He was fully able to perform all self-care activities and had a driving license.

He still had an athletic build (height: 164 cm, weight: 56 kg), poor facial expressions, narrowed palpebral fissures, and increased facial muscle tone. Postural abnormalities included considerably protracted shoulders, increased lumbar lordosis and thoracic kyphosis, pectus carinatum, elbow and radiocarpal joints in a flexion position, and a decrease in hand strength. There was a slight forward tilt of the pelvis. Muscle strength of the upper and lower limbs was +3 in the Lovett scale. An abnormal gait pattern persisted, with a stiff and swaying gait.

A physical examination revealed the following:

bilateral contractures of the iliopsoas (Thomas test);

bilateral contractures of the rectus femoris muscles (Ely’s test);

mild balance disturbances during a Romberg test with eyes closed, no abnormalities found with eyes open;

the result of a Timed Up and Go (TUG) Test was 9 seconds, which is considered a normal value;

when standing on one leg with eyes closed, the patient had trouble maintaining his balance; he was able to hold the position for 10 seconds (both when standing on his right and left leg). With eyes open, the result was 30 seconds for each leg;

soleus length test, which involves squatting with heels on the floor, showed that the heel was lifted off the floor mid-movement, indicating a contracture of the soleus;

gastrocnemius length test revealed no contractures. During the test, the angle between the patient’s lower leg and the ground was 50 degrees, which indicates a normal muscle length;

popliteal angle test: patient in a supine position, the leg to be tested is flexed at the hip to 90 degrees and the knee is extended; the knee extension deficit is the popliteal angle; the popliteal angle in this patient was 23 degrees, showing a contracture of the ischiocrural muscles;

Matthias test showed Grade 1 postural muscle impairment. After 25 seconds, the patient was unable to maintain an upright posture and his physiological thoracic kyphosis and lumbar lordosis increased;

Patrick test showed a mild bilateral contracture of the adductors of the thigh;

Dega wall test revealed a contracture of the pectoral muscles; the angle between the humerus and the wall during upper limb flexion was 45 degrees;

Kraus-Weber test showed normal abdominal muscle strength;

back muscle strength in the Lovett scale was assessed at 4 in flexion, 4 in extension, 3 in lateral flexion to the right and to the left, 4 in rotation to the left, and 3 in rotation to the right.

The patient scored 95 points in a functional assessment with the Barthel Index, which corresponds to mild impairment. Points were deducted for dressing and undressing as the patient was only able to perform half of the activity by himself and required help.

The patient’s cardiovascular and respiratory performance was normal and EMG showed normal peripheral nerve conductivity; there were persistent myotonic reactions in the masseters, the orbicularis oris, and the orbicularis oculi.

Physical therapy and rehabilitation were conducted at the patient’s house in a rural area (a place located more than a dozen kilometres from the nearest small village). Consequently, there were very limited possibilities of therapy. The program included: irradiation with a Sollux lamp, hydromassage of the whole body, upper limb massage, PNF exercises, functional application of the upper limbs, manual exercises with a board, respiratory and phonatory exercises, and the use of orthoses maintaining a physiological position of the upper limbs in the radiocarpal joints [14,15].

After 3 years of rehabilitation, we achieved:

improved gait pattern (improved foot rolling),

improved manipulative function of the hand (better use of cutlery, better pencil grip),

more efficient changes of position (sitting to standing, supine to prone),

partial decrease in spasticity,

improvement with respect to self-care (using the toilet, getting up more efficiently after falls),

improved central and peripheral stability.


Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and bone dysplasia. It is caused by mutations in the perlecan-encoding gene. Perlecan is a heparan sulphate proteoglycan present in the basement membrane and in the extracellular matrix adjacent to cells. It is synthesized both by the vascular endothelium and smooth muscle cells and is found in the extracellular matrix. Perlecan is present early in utero, interacting with laminin and entactin to create the basement membrane architecture. It also facilitates the regulation of cell proliferation and migration and helps maintain the barrier function of the endothelium. Moreover, it plays an important role in angiogenic processes. It is a strong inhibitor of smooth muscle cell proliferation and thus participates in maintaining vascular homeostasis. Perlecan promotes the activity of fibroblast growth factor 2 (FGF2) and, consequently, stimulates endothelial growth and regeneration. As a non-collagenous protein, perlecan forms the bone structure and influences cartilage compressibility.

SJS may be progressive. The etiopathogenesis of the syndrome has been studied since the description of the first seven cases observed in Africa. The physical therapy and rehabilitation conducted at the patient’s house are difficult due to persistent muscle stiffness that limits movement in the joints, especially in the knee, wrist, and upper limbs. This hinders changing positions and performing exercises. There is a tendency towards increased muscular stiffness on cold rainy days and during winter. In summer, the stiffness is reduced. Fast fatigability is connected with excessive sweating. After several hours of normal activities, the patient is very tired and after coming home from school, he is often not able to undress himself, open the door or perform basic household chores on his own. The programme of rehabilitation conducted at home is adjusted to the current physical condition of the patient and includes periodical breaks so as not to exhaust him.

The intellectual development of patients with SJS is usually normal, but in approx. 20% of cases there is mild intellectual disability. Intellectual impairment may be secondary and result from the abnormal development of speech and from motor problems caused by osteoarticular defects. Management of the patients requires the effort of numerous specialists. In the case of our patient, the rehabilitation takes place at home in a rural area, far from a multi-field facility where the patient could undergo an extended rehabilitation programme. The following procedures should be implemented: thermotherapy (paraffin compresses), selected electrotherapeutic procedures, alternating low-frequency magnetic fields, laser therapy, underwater massage, whirlpool massage, and carbonic acid baths.

The kinesiotherapy programme should be extended to include antigravity exercises, balance exercises, and occupational therapy. Due to very limited possibilities of rehabilitation at the place of residence, the patient should be systematically (1-2 times a year) referred for health resort hospital treatment to undergo a comprehensive programme of physical therapy and rehabilitation.


1. Schwartz-Jampel Syndrome is a difficult diagnostic and therapeutic problem.

2. Physical therapy and rehabilitation constitute the basis for the treatment of this disorder.


1. Arya R, Sharma S, Gupta N et al. Schwartz Jampel syndrome in children. J Clin Neurosci. 2013;20(2): 313-317

2. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthal. 1962;68:52-57.

3. Iwata S, Ito M, Nakata T et al. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Neuromuscul Disord. 2015;5(8):667-671.

4. de Oliveira Camacho FC, Lopes Amaral TM, de Barros Mourao JI. A successful anesthetic approach in a patient with Schwartz-Jampel syndrome. Saudi J Anaesth. 2018;12(1):128-130.

5. Aberfeld DC, Hinterbuchner L, Schneider M: Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965;88:313-322.

6. Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet. 1992;29:58-62.

7. Ho NC, Sandusky S, Madike V et al. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol. 2003;3:3.

8. Arikawa-Hirasawa E, Le AH, Nishino I et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002;70:1368-1375.

9. Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet. 1987;27:799-805.

10. Giedion A, Boltshauser E, Briner J et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr. 1997;156:214-223.

11. Squires LA, Pranglej J: Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine. Ped Neurol 1996;15:172-174.

12. Morrison DA, Mellington FB, Hamada S et al. Schwartz-Jampel syndrome: surgical management of the myotonia-included blepharospasm and acquired ptosis after failure with botulinum toxin A injections. Ophthal Plast Reconstr Surg 2006;22:57-59.

13. Stum M, Girard E, Bangratz E et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet. 2008;17:3166-3179.

14. Kuliński W. Fizykoterapia, In: Fizjoterapia w pediatrii. Warsaw: Wydawnictwo Lekarskie PZWL 2012, 315-350.

15. Kuliński W: Balneoterapia, In: Fizjoterapia w pediatrii. Warsaw: Wydawnictwo Lekarskie PZWL, 2012, 350-359.

Conflict of interest:

The Authors declare no conflict of interest.

Corresponding autor

Włodzisław Kuliński

Division of Physical Medicine,

Jan Kochanowski University, Kielce,

tel.: 503486095

e-mail: wkulinski52@hotmail.com

Received: 19.06.2018

Accepted: 10.09.2018

Fig. 1A and B present the patient’s posture.

Fig. 1A, B – patient with Schwartz-Jampel syndrome.