Table 1.

Clinical Features of Patients with BVVLS

Case	Origin	Consanguinity	Pre-Morbid Status	Age at Onset	Sex	Initial Presentation	Deafness, Age at Diagnosis	Respiratory Compromise, Age	Associated Features	Disease Duration
Family 1
Case 1	Arabic	Yes	Recurrent chest infections since age 4 mo	13 mo	M	Sub-acute encephalopathy	13 mo	17 mo	Hypotonia, cerebellar signs, brisk reflexes in the lower limbs, persistent ankle clonus, stridor, EMG: bulbar palsy, anterior horn involvement; phrenic nerve denervation, auditory neuropathy	Alive by age 2 yr; required respiratory support
Case 2	Arabic	Yes	Not known	6 mo	M	Hypotonia, bulbar palsy	Not known	6 mo	Hypotonia, bulbar palsy, respiratory difficulties	Died, age 13 mo
Family 2
Case 3	European ancestry	No	Normal	16 mo	F	Progressive bulbar palsy	16 mo	Ventilated, over last few mo	Anterior horn neuropathy; Intact cognitive development	Died, age < 3yr
Family 3
Case 4	European/Asian	No	Normal	9 mo	M	Breathing problems	Yes	2 yr	Multiple cranial nerve involvement	Died, age 2 yr
Family 4
Case 5	Pakistani	Yes	Normal	12 yr	F	VII nerve palsy, deafness	12 yr	Stridor on exercise, age 28 yr	Progressive muscle weakness	Alive, age 36 yr
Case 6	Pakistani	Yes	Normal	12 yr	F	Deafness, Tongue wasting and fasciculations	12 yr, cochlear implant, age 15 yr	Stridor on exercise, age 21 yr	Poor balance, proximal muscle group weakness	Alive, age 29 yr
Family 5
Case 7	Pakistani	Yes	Normal	5 yr	F	Tongue fasciculations, facial palsy,	7 yr, aided	13 yr	Progressive muscle weakness and wasting, external ophthalmoplegia	Died, age 14 yr
Family 6
Case 8	European	No	Normal	3 mo	F	Breathing difficulties, weakness	Yes	3 mo	General weakness, flaccid	Died, age 11 mo
Family 7
Case 9	European	No	Normal	Second decade	M	Multiple peripheral neuropathy	Yes	No	Progressive weakness, muscle wasting and truncal ataxia	Alive, age 57 yr