Her motor skills declined faster, and she was wheelchair-bound by the time she was in her early 20s. She also showed signs of primary hypogonadism and no development of secondary female sex characteristics. [accessanesthesiology.mhmedical.com]

She became wheelchair bound in her early 20s. Around the age of 14, a slowly progressive dysarthria and alopecia developed. There was primary amenorrhea, with no development of secondary female sexual characteristics. [updoc.site]

Over ten years of follow-up, she became severely disabled and wheelchair bound because of her worsening movement disorder. Physical examination on admission disclosed generalized dystonia involving the trunk and all four limbs. [e-sciencecentral.org]

Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016 ). [mendelian.co]

walking Pes cavus Cerebellar atrophy Fatigue Anxiety Postural instability Muscle weakness Peripheral neuropathy Horizontal nystagmus Autosomal recessive inheritance Truncal ataxia Limb ataxia Progressive Myoclonus Cerebral cortical atrophy Dysdiadochokinesis [mendelian.co]

However, depending on the age and severity of neurologic symptoms, recurrent pulmonary aspirations are possible, and a preoperative chest radiograph might be ... [accessanesthesiology.mhmedical.com]

Mitral valve prolapse Absence of secondary sex characteristics Macroglossia Micrognathia Acne Polydactyly Abnormal heart morphology Aspiration pneumonia Low-set ears Generalized hyperpigmentation Edema Epistaxis Abnormality of the pinna Atrial septal [mendelian.co]

Both sibs had normal hair until the second decade, when progressive hair loss occurred. Structurally, nonspecific findings of longitudinal grooves in the hair shafts were present. The pathogenesis of this disorder is unknown. [updoc.site]

Heterozygous carriers had normal hair and were unaffected. [findzebra.com]

Eye movements were normal. Hearing was normal and she was able to understand a simple conversation. There was alopecia of the scalp, with absence of eyelashes (mainly of the lower eyelids) and sparse eyebrows. [updoc.site]

behavior Cerebral atrophy Coma Impaired visuospatial constructive cognition Upgaze palsy Jerky ocular pursuit movements Impaired distal vibration sensation Intention tremor Titubation Morphological abnormality of the pyramidal tract Lower limb spasticity [mendelian.co]

The neurological manifestations included moderate to severe intellectual decline, muscular hypotonia, choreoathetoid posture and dystonic movements resulting in gait difficulty, dysarthria, dysphagia, and scoliosis. [accessanesthesiology.mhmedical.com]

The slowly progressive neurological manifestations with onset later in life suggest a neurodegenerative disorder. [updoc.site]

The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. [ncbi.nlm.nih.gov]

Neurological manifestations The American College of Rheumatology published a nomenclature plan pro neuropsychiatric manifestations of SLE in an endeavour to standardize and The using software is judicial proceeding manifestation purchase clomid 100mg [warmbutter.com]

Clinical and laboratory attributes of affected individuals Affected Individuals Sex Age (years) Height (cm) Weight (kg) Ectodermal appendages Alopecia Adontia Premature aged appearance Ocular findings Keratoconus Neurological Manifestations Deafness MRI [docksci.com]

sign Dysmetria Hyperreflexia Dystonia Abnormal pyramidal sign Tremor Seizures Depressivity Torticollis Difficulty walking Pes cavus Cerebellar atrophy Fatigue Anxiety Postural instability Muscle weakness Peripheral neuropathy Horizontal nystagmus Autosomal [mendelian.co]

One patient with adolescent-onset ceroid lipofuscinosis with extrapyramidal and cerebellar signs, associated with hypergonadotropic hypogonadism has been reported “ass et al., 19861. This was not associated with alopecia. [updoc.site]

She was unable to walk and could not sit unsupported. Speech was unintelligible. Movements were uncontrolled, with choreoathetotic and dystonic movements of the upper limbs with the head constantly held in hyperextension. Eye movements were normal. [updoc.site]

Fryns Published 1996 in American journal of medical genetics We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary [semanticscholar.org]

Koenraad Devriendt, Eric Legius, and Jean Pierre Fryns Center for Human Genetics, University of Leuuen, Leuuen, Belgium We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence [updoc.site]

Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein. [genome.jp]