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The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy. 1995

W I Verhagen, and P L Huygen, and G W Padberg
Department of Neurology, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands.

Auditory, vestibular and oculomotor function tests were performed in 14 FSHD patients (7 men, 7 women, aged 19-74 years) with autosomal dominant facioscapulohumeral dystrophy (FSHD) due to chromosome 4q35 associated DNA rearrangements. (Cochlear) sensorineural hearing loss (SNHL) in excess of that expected for their age was found in 6 patients: in 3 at the higher frequencies and in 3 also at the lower (speech) frequencies. Brain-stem auditory evoked potentials were generally normal. Oculomotor functions were normal. Four patients showed vestibular hyperreflexia, perhaps secondary to diminished head movements. Despite the apparent genetic homogeneity of the present patients, the above-mentioned findings showed significant associations with certain families, the cases of new mutations, or a certain generation. Therefore, FSHD in our patients demonstrated clinical heterogeneity.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D009802 Oculomotor Nerve The 3d cranial nerve. The oculomotor nerve sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye. It also sends parasympathetic efferents (via the ciliary ganglion) to the muscles controlling pupillary constriction and accommodation. The motor fibers originate in the oculomotor nuclei of the midbrain. Cranial Nerve III,Third Cranial Nerve,Nerve III,Nervus Oculomotorius,Cranial Nerve IIIs,Cranial Nerve, Third,Cranial Nerves, Third,Nerve IIIs,Nerve, Oculomotor,Nerve, Third Cranial,Nerves, Oculomotor,Nerves, Third Cranial,Oculomotor Nerves,Oculomotorius, Nervus,Third Cranial Nerves
D011930 Reaction Time The time from the onset of a stimulus until a response is observed. Response Latency,Response Speed,Response Time,Latency, Response,Reaction Times,Response Latencies,Response Times,Speed, Response,Speeds, Response
D012021 Reflex, Abnormal An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. Hyperreflexia,Hyporeflexia,Abnormal Deep Tendon Reflex,Abnormal Reflex,Abnormal Reflexes,Bulbocavernosus Reflex, Decreased,Bulbocavernousus Reflex Absent,Hoffman's Reflex,Palmo-Mental Reflex,Reflex, Absent,Reflex, Acoustic, Abnormal,Reflex, Anal, Absent,Reflex, Anal, Decreased,Reflex, Ankle, Abnormal,Reflex, Ankle, Absent,Reflex, Ankle, Decreased,Reflex, Biceps, Abnormal,Reflex, Biceps, Absent,Reflex, Biceps, Decreased,Reflex, Corneal, Absent,Reflex, Corneal, Decreased,Reflex, Decreased,Reflex, Deep Tendon, Abnormal,Reflex, Deep Tendon, Absent,Reflex, Gag, Absent,Reflex, Gag, Decreased,Reflex, Knee, Abnormal,Reflex, Knee, Decreased,Reflex, Moro, Asymmetric,Reflex, Pendular,Reflex, Triceps, Abnormal,Reflex, Triceps, Absent,Reflex, Triceps, Decreased,Reflexes, Abnormal,Absent Reflex,Decreased Bulbocavernosus Reflex,Decreased Reflex,Palmo Mental Reflex,Pendular Reflex,Reflex Absent, Bulbocavernousus,Reflex, Decreased Bulbocavernosus,Reflex, Hoffman's,Reflex, Palmo-Mental
D012027 Reflex, Vestibulo-Ocular A reflex wherein impulses are conveyed from the cupulas of the SEMICIRCULAR CANALS and from the OTOLITHIC MEMBRANE of the SACCULE AND UTRICLE via the VESTIBULAR NUCLEI of the BRAIN STEM and the median longitudinal fasciculus to the OCULOMOTOR NERVE nuclei. It functions to maintain a stable retinal image during head rotation by generating appropriate compensatory EYE MOVEMENTS. Vestibulo-Ocular Reflex,Reflex, Vestibuloocular,Reflexes, Vestibo-Ocular,Reflexes, Vestibuloocular,Reflex, Vestibulo Ocular,Reflexes, Vestibo Ocular,Vestibo-Ocular Reflexes,Vestibulo Ocular Reflex,Vestibuloocular Reflex,Vestibuloocular Reflexes
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002894 Chromosomes, Human, Pair 4 A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. Chromosome 4
D005260 Female Females

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