We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 31, 2019 [patientslikeme.com]

One child presented with isolated central apnea and hypoventilation, not previously described in genetically confirmed Brown-Vialetto-van Laere, later complicated by diaphragmatic paralysis secondary to phrenic nerve palsy. [ncbi.nlm.nih.gov]

Clumsiness ; Cranial nerve motor loss ; Diaphragmatic weakness ; Dysphagia ; External ophthalmoplegia ; Facial palsy ; Hand muscle atrophy ; Juvenile onset ; Knee clonus ; Kyphosis ; Muscular hypotonia ; Myopathic facies ; Neck muscle weakness ; Nocturnal hypoventilation [mousephenotype.org]

The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. [ncbi.nlm.nih.gov]

The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. [ncbi.nlm.nih.gov]

Major features of BVVL include facial and neck weakness, fasciculation of the tongue, and neurological disorders from the cranial nerves. [en.wikipedia.org]

[…] of the tongue, and neurological disorders from the cranial nerves ( Prahbu 2005 ). [ipfs.io]

We describe a case of Brown-Vialetto-Van Laere syndrome with strong family history for sensorineural hearing impairment. The patient came to our medical attention for severe respiratory failure and leg weakness. [ncbi.nlm.nih.gov]

impairment ; Stridor ; Tongue atrophy ; Tongue fasciculations ; Vocal cord paralysis ; Weak voice Associated Genes SLC52A3 (Withdrawn symbols: C20orf54, RFVT3, bA371L19.1, hRFT2 ) Mouse Orthologs Slc52a3 (Withdrawn symbols: 2310046K01Rik ) Source OMIM [mousephenotype.org]

She attends a school for hearing-impaired children. [doi.org]

Very rarely, affected cases do not appear to develop deafness, presumably because these individuals die before the hearing impairment develops [ 9 ]. [ojrd.biomedcentral.com]

The first symptoms appeared at the age of 18 years with tinnitus, weakness and unsteadiness that progressed over the course of a few weeks to deafness, blurring of vision, dysphagia, and dysarthria. [ncbi.nlm.nih.gov]

muscle weakness ; Nocturnal hypoventilation ; Peripheral neuropathy ; Progressive ; Proximal muscle weakness ; Ptosis ; Recurrent respiratory infections ; Respiratory distress ; Respiratory insufficiency ; Scoliosis ; Sensorineural hearing impairment [mousephenotype.org]

Non-neurological symptoms can include diabetes, auditory hallucinations, respiratory difficulties, color blindness, and hypertension. The disorder has been associated with various mutations in the SLC52A2 and SLC52A3 genes. [en.wikipedia.org]

Neurological symptoms of BVVL include optic atrophy, cerebellar ataxia, retinitis pigmentosa, epilepsy and autonomic dysfunction. [6] Non-neurological symptoms can include diabetes, auditory hallucinations, respiratory difficulties, color blindness, and [ipfs.io]

Other non-neurological features that have been reported include auditory hallucinations [ 2 ], behavioral changes [ 27 ], color blindness [ 20 ], diabetes insipidus [ 1 ], delayed puberty and hypogonadism [ 16 ], dysmorphic features [ 25 ], gynecomastia [doi.org]

Conclusion: Brown-Vialetto-Van Laere syndrome is a potential treatable disease with the main symptoms ataxia, optic atrophy, sensorineural deafness, and facial palsy. [thieme-connect.com]

We present the case of a male who presented at the age of 5 years with sensorineural deafness, as well as those of 2 infant sisters who presented at 11 and 13 months of age with weakness and ataxia, respectively. [ncbi.nlm.nih.gov]

She developed progressive bilateral ptosis, and gait ataxia over 2 months, and experienced several episodes of choking in the week prior to the presentation. [doi.org]

BVVLS is characterized by cranial neuropathies, pontobulbar palsy, sensorimotor neuropathy manifesting with sensory ataxia, weakness of upper limbs and axial muscles, with preserved strength of lower limbs, optic atrophy, sensorineural hearing loss, and [pediatricneurologybriefs.com]

The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure. [en.wikipedia.org]

Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms that culminated to diagnosis. Six years later, he had gradual worsening and death. [ncbi.nlm.nih.gov]

Cor pulmonale is a complication of hypoventilation-induced hypoxia and hypercapnia and had not yet been reported in BVVLS. [ncbi.nlm.nih.gov]

Autopsy disclosed bilateral neuronal loss and gliosis in the inferior colliculi, locus coeruleus and facial and vestibular nuclei. [ncbi.nlm.nih.gov]