Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome)

Kaplan, Leon; Margulies, Joseph Y.; Kadari, Avishag; Floman, Yizhar; Robin, Gordon C.

doi:10.1007/bf01676572

Cited by 24 publications

(16 citation statements)

References 18 publications

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“…About 50% of the spinal deformities are scoliosis only, 44% are kyphoscoliosis, and the remaining 4% kyphosis only (Kaplan et al , 1997; Bar-on et al , 2000; Laplaza et al , 2001). Charcot joints and foot deformities (including equinovarus and cavovarus) develop during childhood in about 10-15% of FD patients (Bar-on et al , 2000).…”

Section: Clinical Aspects and Pathological Findingsmentioning

confidence: 99%

Familial Dysautonomia: Mechanisms and Models

Dietrich

Dragatsis

2016

Genet. Mol. Biol.

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Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed to abnormal development and progressive degeneration of the sensory and autonomic nervous systems. Despite clinical interventions, the disease is inevitably fatal. FD is caused by a point mutation in intron 20 of the IKBKAP gene that results in severe reduction in expression of IKAP, its encoded protein. In vitro and in vivo studies have shown that IKAP is involved in multiple intracellular processes, and suggest that failed target innervation and/or impaired neurotrophic retrograde transport are the primary causes of neuronal cell death in FD. However, FD is far more complex, and appears to affect several other organs and systems in addition to the peripheral nervous system. With the recent generation of mouse models that recapitulate the molecular and pathological features of the disease, it is now possible to further investigate the mechanisms underlying different aspects of the disorder, and to test novel therapeutic strategies.

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Section: Clinical Aspects and Pathological Findingsmentioning

confidence: 99%

Familial Dysautonomia: Mechanisms and Models

Dietrich

Dragatsis

2016

Genet. Mol. Biol.

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“…Restrictive lung disease occurs in 94% of patients with FD [31-33, 51], reflected by abnormal pulmonary function test results. There is a progressive tidal volume reduction, consistent with neuromuscular disease [52].…”

Section: Chronic Respiratory Disorders In Fdmentioning

confidence: 99%

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Kazachkov

Palma

Norcliffe‐Kaufmann

et al. 2018

Respiratory Medicine

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Background Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. Methods We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. Results Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, noninvasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. Conclusions Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.

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“…Scoliosis was classified as mild (11-20 degrees), moderate (21-40 degrees), or severe ($41 degrees). 13 The linear growth velocity was calculated for five time periods, ie, for the 6 months before the start of GH therapy and then for four intervals during GH treatment, ie, 0 to 6 months, 6 to 12 months, 1 to 2 years, and >2 years (Table II).…”

Section: Treatment and Monitoringmentioning

confidence: 99%