Arthrogryposis Multiplex Congenita With Congenital Posterior Column Degeneration and Peripheral Neuropathy

Folkerth, Rebecca D.; Kinney, Hannah C.; Kupsky, William J.; Hall, Sara

doi:10.1097/00005072-198905000-00031

Cited by 5 publications

(5 citation statements)

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“…In this paper, we report two siblings with AMC who presented with non-progressive marked sensory ataxia since birth, which is most likely due to developmental sensory ganglionopathy selectively involving the proprioceptive system. Although several cases of hereditary neuropathy associated with AMC have been reported [2,3,12,17], the clinical pictures and the peripheral nerve pathology of the siblings reported here have not been reported to the authors' knowledge.…”

Section: Introductionmentioning

confidence: 65%

“…Cases reported by Seitz et al [12] and Boylan et al [2] also showed peripheral neuropathy associated with AMC, but those cases remained ventilator-dependent throughout their life and died within 64 days of age. Folkerth et al [3] reported an infant who was born with AMC from consanguineous parents and died of respiratory failure after living 64 days. Neuropathologically there was severe axonal degeneration of the peripheral nerves and the posterior column.…”

Section: Discussionmentioning

confidence: 99%

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A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex

et al. 2004

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We report two siblings who presented with non-progressive marked sensory ataxia associated with arthrogryposis multiplex congenita (AMC). Deep tendon reflexes and H reflex were completely absent, but F waves were preserved. The sensory nerve conduction studies indicated the presence of relatively mild sensory polyneuropathy. The conventional somatosensory evoked potentials (SEPs) showed mildly prolonged latency for both the peripheral and cortical responses, suggesting a slowed conduction through the peripheral as well as central pathway. However, the 'proprioceptive SEPs' were absent, in conformity with complete loss of joint sense. Sural nerve biopsy revealed only mild thinning of myelin in the younger sister but was entirely normal in her brother. Taken together with the characteristic electrophysiological findings, the symptoms were considered to be due to predominant involvement of a selective population of somatosensory ganglions. The present cases showed no progression of the neurological deficit what-so-ever since birth, which strongly suggests a developmental anomaly or aplasia of a limited population of peripheral sensory neurons.

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Section: Introductionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 99%

A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex

et al. 2004

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“…There was marked hypotonia and hyporeflexia, probably occurring in utero and leading to the congenital contractures. Two other apparently X‐linked families with similar features without the hyperkeratosis have been reported [Vogel et al, ; Folkerth et al, ].…”

Section: Resultsmentioning

confidence: 90%

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

Hunter

Kiefer

Balak

et al. 2015

American J of Med Genetics Pt A

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The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

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“…In this report, fetal akinesia of affected pups, documented in utero, led to multiple joint contractures, pulmonary hypoplasia, and failure of respiration at birth. It is well demonstrated that any condition restricting fetal movement in utero may result in a constellation of morphologic abnormalities, including intrauterine growth retardation, facial anomalies, immobile joints, and limb malposition (Moessinger, 1983; Hall, 1986, 1997; Hageman et al, 1987; Folkerth et al, 1993; Bürglen et al, 1996; Riemersma et al, 1996; Brownlow et al, 2001). Such conditions can be extrinsic to the fetus (e.g., oligohydramnios) or intrinsic lesions (e.g., toxic, infectious, or genetic) that affect the kinesthetic pathways, motor neurons, neuromuscular junction, or skeletal muscle.…”

Section: Discussionmentioning

confidence: 99%

Inherited neuroaxonal dystrophy in dogs causing lethal, fetal‐onset motor system dysfunction and cerebellar hypoplasia

Fyfe

Al-Tamimi

Castellani

et al. 2010

J of Comparative Neurology

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Neuroaxonal dystrophy in brainstem, spinal cord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of laboratory dogs. Fetal akinesia was documented by ultrasonographic examination. At birth, affected puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central nervous system was apparent grossly, most strikingly as underdeveloped cerebellum and spinal cord. Histopathologic abnormalities included swollen axons and spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, patchy loss of Purkinje cells, multifocal thinning of the external granular cell layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of myelinated axons in spinal roots and peripheral nerves; increased myocyte apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation around joints. Breeding studies demonstrated that the canine disorder is a fully penetrant, simple autosomal recessive trait. The disorder demonstrated a type and distribution of lesions homologous to that of human infantile neuroaxonal dystrophy (INAD), most commonly caused by mutations of PLA2G6, but alleles of informative markers flanking the canine PLA2G6 locus did not associate with the canine disorder. Thus, fetal-onset neuroaxonal dystrophy in dogs, a species with welldeveloped genome mapping resources, provides a unique opportunity for additional disease gene discovery and understanding of this pathology.

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Arthrogryposis Multiplex Congenita With Congenital Posterior Column Degeneration and Peripheral Neuropathy

Cited by 5 publications

References 0 publications

A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex

A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

Inherited neuroaxonal dystrophy in dogs causing lethal, fetal‐onset motor system dysfunction and cerebellar hypoplasia

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