Schwartz Jampel Syndrome
What is Schwartz Jampel Syndrome?
Schwartz Jampel syndrome is a rare infection that is instigated by an inherent disorder that upsets the rate of development of the bones and the muscular system. This may be characterized by the hardening and fatigue of the muscles and tendons. Furthermore, the condition leads to deformed joints that make movement a nightmare. Shortened limbs and distorted eyesight are also attributable to SJS.
Initially, the condition was sub-divided into two types; type1 and type 2. Neonatal is another name for the type 2 Schwartz Jampel Syndrome is fatal and severe commonly referred to as Stuve-Wiedemann syndrome. This condition is brought about by the chromosomal alterations of the gene LIFR. Presently, Schwartz Jampel Syndrome has been divided into two; Type 1a and Type 1b. These two stages of the disease are differentiated by the nature of the infection, incubation stage and the age at inception of the ailment.
Type 1A is the typical Schwartz Jampel Syndrome and whose characteristics are not expressed until later on in childhood. Infected kids experience the signs as they attain the age of 10. Contrary to this, individuals suffering from Type B SJS will experience the symptoms earlier on; essentially after birth. Such infections reveal their symptoms immediately after birth and which are more severe and outward. This condition is prompted by mutation of the gene HSPG2.
The disease has been said to be passed on in an autosomal declining manner. However, updated research shows the presence of an autosomal dominant inheritance array. Control for either of the types is aimed at improving the ability and strength of the muscles. Muscle activity ought to be retained at optimal levels.
Symptoms
- Contraction of the joints
- Enlarged muscles that are weak, fatigued and rigid. This increases muscle inactivity.
- Fixed facial expressions. This may extend leading to small facial features and narrow eye openings commonly known as blepharophimosis, uncontrollable blinking; blepharospasm.
- Bilateral carpel tunnel syndrome
- Only a small percentage of the overall SJS infected persons suffer from deprived intellectual capacity. The majority of the patients have the normal IQ.
- Essentially, the Human Phenotype Ontology (HPO) has compiled a list of all the complications and features of the disease among different patients. This compilation makes future studies of the disease easier, as it provides a guideline to be followed if at all the ailment is to be corrected.
| Signs and symptoms | Frequencies in terms of numbers |
| Abnormality of the wide portion of a long bone that is responsible for growth | Very frequent (present in 80%-99% of cases) |
| Anomaly of epiphysis, which is the expanded articular end of a long bone | Very frequent (present in 80%-99% of cases) |
| Increased levels of aldodase level | Very frequent (present in 80%-99% of cases) |
| Increased serum creatine phosphokinase | Very frequent (present in 80%-99% of cases) |
| Abnormal EMG patterns | Very frequent (present in 80%-99% of cases) |
| Full cheeks | Very frequent (present in 80%-99% of cases) |
| Pouting of the lower lip | Very frequent (present in 80%-99% of cases) |
| Posture changes | Very frequent (present in 80%-99% of cases) |
| Prevalence of knock knees | Very frequent (present in 80%-99% of cases) |
| Misalignment of the hipbone | Very frequent (present in 80%-99% of cases) |
Causes
SJS occurs as a result of the alteration of the HSPG2 gene. The gene is responsible for commanding the encoding of the protein perlecan in the human body which is present in the muscular system. Despite, the importance of the perlecan remaining unknown, it is believed to be a crucial part of the undertaking of certain crucial body functions.
Such functions include: signaling in the cells, improving the cell structure. SJS is responsible for the decreased level of perlecan leading to low levels of acetylcholinesterase. This neurotransmitter is responsible for transmission of nerve impulses that are crucial in muscle expansion and relaxation. Failure to break the compound leads in continued muscle contraction, which can be adverse as the tendons tend to stiffen.
Inheritability of the condition
The majority of the Schwartz Jampel Syndrome cases that are passed on to other members of a lineage through an autosomal recessive pattern. This means that persons must have two copies of the gene that is liable for the continued mutation.
This means that for one to successfully contract the disease, they must attain at least one of the causal genes from either of the parents. However, though the condition affects the offspring, it does not harm the parents as they are carriers of the disease and exhibit no symptoms.
Very rare cases of Schwartz Jampel Syndrome have been reported to be caused by autosomal dominant inheritance. This condition illustrates that a single mutated gene is enough to warrant the expression of the characteristics of the ailment.
Diagnosis
There are a wide variety of signs and symptoms that make the diagnosis of the ailment easier and quicker to determine. The disease is mostly diagnosed on the reliance on facial features, skeletal system and the hardening of muscles. The various tests and studies were done to avert the condition should include:
- Blood tests- This is used to check the level of creatine kinase in the blood system.
- X-ray- Checking for discrepancies in the muscles and bones
- EMG- nerve studies
Testing for the condition
Crucial information on the testing for the condition is provided for in the Genetic Testing Registry (GTR). This information is available for all medical practitioners as well as researchers on the same. Patients with the condition can in turn access this crucial information through their physicians.
Treatment
The healing process aims at eradicating the hardening of muscles and stiffness. Correctional procedure on this will help get rid of the cramping of the muscles. This can be done by frequent exercising, massaging of aching muscles and muscle warming. Additionally, medication is used as muscle relaxants and cushion against seizures. Carbamazepine is the most common relaxant used.
Botox may be included into the prescription to avert the complications that occur in the optical system. Failure of the drug to address the problem head on will result in the introduction of surgical procedures.
Prognosis
The majority of SJS patients normally live with an ordinary life expectancy. The severity of the symptoms may worsen or ease as time elapses. Prompt measures must be taken to prevent later complications and discomforts that come later on in life.
References
- Pearl PL & Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract.
- Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800.
- Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
