The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia

Kahanovitz, Neil; Rimoin, David L.; Sillence, David

doi:10.1097/00007632-198203000-00008

Cited by 55 publications

(34 citation statements)

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“…The authors reviewed the literature on thoracolumbar kyphosis in achondroplasia published in the period from 1975 to July, 2010. They identified seven studies, of which one study met the inclusion criteria for our scoping review. The other six studies dealt with children or surgical treatment, and were therefore not within the purpose of our scope.…”

Section: Resultsmentioning

confidence: 99%

“…Spinal stenosis: Prevalence might be about 20%‐30%, ,and increases with age Symptom‐start often before 30 years of age Rapid progression Primarily a central stenosis Both clinical and radiological assessment recommended for diagnosis Proportion needing spinal stenosis surgery up to 30% …”

Section: Resultsmentioning

confidence: 99%

“…Six studies investigated spinal stenosis and back pain in adults with achondroplasia . Hunter et al found that 70% reported back pain at the age of 50 years or older .…”

Section: Resultsmentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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“…An earlier and more conspicuous onset of signs of degeneration with the growth of osteophytes that reduce the dimensions of the canal and/or the foramen even further; this occurs in 60% of cases of spinal stenosis 1214. Another factor for stenosis is hypertrophy of the ligamentum flavum, which may or may not be calcified, and occurs fairly frequently (9% of cases) 14. Lastly, there may be “wedge-shaped” deformities of one or more vertebral bodies, particularly between TI0 and L2.…”

Section: Discussionmentioning

confidence: 99%

“…They believed that direct TL radiograms play an important role to diagnose this pathology. Kahanovitz et al 14. found various clinical-radiological correlations on the basis of plain radiograms alone; for example, TL kyphosis not related to age was found more frequently in more severely compromised patients while interpedicular distances of less than 2 cm at L1 and of less than 16 mm at L5 were found only in patients with severe paraparesis.…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia — A prospective study

Modi

Suh

Hong

et al. 2011

IJOO

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Background:Thoracolumbar (TL) stenosis in achondroplasia is frequently reported, and becomes symptomatic in adulthood. Hence we conducted a prospective study to determine cord level and occupancy at TL junction in symptomatic or asymptomatic achondroplasis patients in comparision to normal population by magnetic resonance imaging (MRI).Materials and Methods:Cord level with its occupancy rate and TL kyphosis were measured on MRI and standing radiogram, respectively. We prospectively studied MRI of TL spine in 19 patients (7 males and 12 females) with achondroplasia. All the subjects were randomly selected from our outpatient clinic and divided into two groups: symptomatic and asymptomatic group. Symptomatic group had at least two of the following symptoms: back pain with spasticity and walking difficulty, radicular pain in upper thigh or girdle pain, tingling and numbness in the lower limbs, visible deformity at TL spine and brisk reflexes in lower extremities. Asymptomatic group was selected from those patients who visited in outpatient clinic for consultation of limb lengthening. The third group was taken as control that comprised 11 nonachondroplasia otherwise normal patients (8 males and 3 females) who presented to our outpatient clinic for back pain.Results:Results showed spinal cord level was higher in achondroplasia than nonachondroplasia (P=0.003); however, no difference in cord level between symptomatic and asymptomatic group (P=0.568). Comparing cord occupancy, no difference found among all three groups (P=0.20). Kyphosis was increasing from nonachondroplasia, asymptomatic and symptomatic patient groups (P<0.001). Average age was 22.4±14.2, 11.9±6.5, and 36.2±13.2 years in symptomatic, asymptomatic, and nonachondroplasia groups, respectively (P<0.001).Conclusion:Our results indicated high level of spinal cord in achondroplasia patients compared to nonachondroplasia individuals. High prevalence of neurological symptoms at TL level in such patients can be associated with high cord level and developing progressive kyphosis at TL level along with degenerative process.

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Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective

Lachman

1997

Am. J. Med. Genet.

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The neurologic manifestations of the skeletal dysplasias are reviewed. Three important major groups are identified: Achondroplasia (cranio-cervical junction problems in infancy, spinal stenosis and neurogenic claudication in the adult). Type II collagenopathies (upper cervical spine anatomic and functional problems), and craniotubular and sclerosing bone dysplasias (osseous overgrowth with foraminal obstruction problems). The remainder of the well-identified 150 or so bone dysplasias are also evaluated in depth for their diverse neurologic abnormalities. The findings discussed are important both for the diagnosis and management of these patients.

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The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia

Cited by 55 publications

References 0 publications

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia — A prospective study

Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective

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