Dataset Information

Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report.

ABSTRACT: BACKGROUND:Cerebellar ataxia affects individuals in reproductive age. To date, few clinical cases of cerebellar ataxia and involvement of the cerebellum in sexual response were reported. We report a case of a woman that need to restore skills related for execution of sexual activity and coordination of movements during sexual intercourse. CASE PRESENTATION:We present a case of idiopathic cerebellar ataxia in a 25-year-old woman who was referred for sexual health consultation. The patient complained of sexual problems as follows: "I forgot the behaviors that I should adopt in a sexual encounter, and I know what to do only after paying attention to my movements." The history of sexual behavior indicated that this patient presented a "romantic love" model. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) reports that this condition involves anorgasmia disorder and female sexual arousal disorder. In addition, there was a loss of automatism and coordination of movements in the pelvis and lower extremities. The patient's condition improved with occupational and physical therapy combined with rehabilitation therapy based on cognitive behavioral criteria for sexual therapy. CONCLUSIONS:The case evolved from the romantic-affective model to a realistic model. The patient reported being comfortable during sexual intercourse and could explain her sexual needs to her partner. She managed to coordinate lower limb and pelvic movements, but did not reach an orgasm. Moreover, vaginal lubrication occurred with a time lag of 15-30?min after the end of sexual intercourse or masturbation.

SUBMITTER: Lopez-Sosa C

PROVIDER: S-EPMC6839138 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report.

López-Sosa Carmen C Gámez-Zapata Jorge J Iglesias-de-Sena Helena H Alonso-Sardón Montserrat M

BMC women's health 20191107 1

<h4>Background</h4>Cerebellar ataxia affects individuals in reproductive age. To date, few clinical cases of cerebellar ataxia and involvement of the cerebellum in sexual response were reported. We report a case of a woman that need to restore skills related for execution of sexual activity and coordination of movements during sexual intercourse.<h4>Case presentation</h4>We present a case of idiopathic cerebellar ataxia in a 25-year-old woman who was referred for sexual health consultation. The ...[more]

PMID: 31699074

Similar Datasets

Project description:Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this paper, we present a case of a 53-year-old Caucasian female patient with rare variants in the ERCC4 gene. When she was 42 years old, falls and loss of balance occurred. At the age of 48, involuntary, uncoordinated movements of the upper limbs and head, tongue stereotypes (licking and extending movements), speech problems (dysarthria), memory deterioration, and hearing loss occurred. Since childhood, she has shown hypersensitivity to UV radiation. The neurological examination revealed chorea syndrome, cerebellar ataxia, dysarthria, and bilateral hearing loss. She has numerous pigmented lesions on the skin. Brain MRI demonstrated massive cortico-subcortical atrophy. The neuropsychological examination revealed dysfunctions in the executive domain in terms of attention, working memory, organizing, and planning activities. The genetic diagnostics was performed which excluded spinocerebellar ataxia types 1, 2, 3, 6, and 17, Huntington's disease, and FMR1 premutation. In the genetic analysis of next-generation sequencing (NGS), two variants: c.2395C > T and c.1349G > A in the ERCC4 gene were identified in a heterozygote configuration. So far, a few cases of ERCC4 gene variants, which are associated with nucleotide excision repair pathways, have been described in connection with symptoms of cerebellar ataxia. In patients with ERCC4 biallelic variants, the adult neurological phenotype can sometimes be the first symptom and reason for access to genetic testing. The aforementioned case highlights the occurrence of rare genetic causes of progressive neurodegenerative diseases in adults, especially with the spectrum of autosomal recessive nucleotide excision repair pathway disorders (NERDs).

Project description:BACKGROUND:Progressive cerebellar ataxia is a neurodegenerative disorder without effective treatment options that seriously hinders quality of life. Previously, transcranial direct current stimulation (tDCS) has been demonstrated to benefit cerebellar functions (including improved motor control, learning and emotional processing) in healthy individuals and patients with neurological disorders. While tDCS is an emerging therapy, multiple daily sessions are needed for optimal clinical benefit. This case study tests the symptomatic benefit of remotely supervised tDCS (RS-tDCS) for a patient with cerebellar ataxia. METHODS:We report a case of a 71-year-old female patient with progressive cerebellar ataxia, who presented with unsteady gait and balance impairment, treated with tDCS. tDCS was administered using our RS-tDCS protocol and was completed daily in the patient's home (Monday - Friday) with the help of a trained study technician. tDCS was paired with 20 min of simultaneous cognitive training, followed by 20 min of physical exercises directed by a physical therapist. Stimulation consisted of 20 min of 2.5 mA direct current targeting the cerebellum via an anodal electrode and a cathodal electrode placed over the right shoulder. The patient completed baseline and treatment end visits with neurological, cognitive, and motor (Lafayette Grooved Pegboard Test, 25 ft walk test and Timed Up and Go Test) assessments. RESULTS:The patient successfully completed sixty tDCS sessions, 59 of which were administered remotely at the patient's home with the use of real time supervision as enabled by video conferencing. Mild improvement was observed in the patient's gait with a 7% improvement in walking speed, which she completed without a walking-aid at treatment end, which was in stark contrast to her baseline assessment. Improvements were also achieved in manual dexterity, with an increase in pegboard scores bilaterally compared to baseline. CONCLUSIONS:Results from this case report suggest that consecutively administered tDCS treatments paired with cognitive and physical exercise hold promise for improving balance, gait, and manual dexterity in patients with progressive ataxia. Remotely supervised tDCS provides home access to enable the administration over an extended period. Further controlled study in a large group of those with cerebellar ataxia is needed to replicate these findings. TRIAL REGISTRATION:ClinicalTrials.gov Identifier: NCT03049969 . Registered 10 February 2017- Retrospectively registered.

Dataset Information

Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report.

Publications

Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets