Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy

Table 2 Urodynamic data

ID	Phenotype	Sex	Age (yrs)	First sensation (mL)	Maximum cystometric capacity (mL)	Bladder pressure study	P_det@Q_max (cm H₂O)	Q_max (mL/s)	EMG finding	Vesical wall	Impression
1	AMN	F	63.6	"Very early in filling phase"	Normal	–	14	10	–	smooth	Neurogenic hypocontractile detrusor
2	AMN	F	80.2	112	263	Phasic detrusor contractions	56	11	Synergy	Smooth	NDO
3	AMN	M	57.4	155	155	No phasic detrusor contractions	13	5	Synergy	Markedly trabeculated	NDO, impaired contractility
4A^a	CALD post-HSCT	M	21.9	195	411	No phasic detrusor contractions	42	19	Synergy	Smooth	Normal
4B^a	CALD post-HSCT	M	23.2	62	139	Phasic detrusor contractions	26	11	Sphincter dyssynergia	–	NTDO with DSD
5	AMN, self-halted CALD	M	28.2	32	216	Phasic detrusor contractions	66	9	Synergy	Smooth	NDO, BOO, multi-phasic micturition
6	AMN, self-halted CALD	M	36.3	30–45	43	Terminal detrusor overactivity	62	3	Sphincter dyssynergia	Moderately trabeculated	NTDO with DSD
7	AMN, self-halted CALD	M	20.9	262	348	No phasic detrusor contractions	47	15	Synergy	Smooth	NTDO, neurogenic delay in sensory arm
8	AMN	F	47.2	130	431	Phasic detrusor contractions	8	3	Synergy	Smooth	NDO
9	AMN	F	47.2	132	545	Phasic detrusor contractions	20	10	Synergy	Smooth	NDO, impaired contractility
10	AMN	M	46.9	78	293	Phasic detrusor contractions	56	11	Synergy	Smooth	severe NDO
11	AMN, self-halted CALD	M	34.8	286	359	Phasic detrusor contractions	51	11	Synergy	Smooth	NDO

Summary of urodynamic patient data collected at Massachusetts General Hospital, describing a diverse array of neurogenic bladder presentations
^aPatient 4 had urodynamic studies performed at two timepoints
BOO, bladder outlet obstruction; DSD, detrusor sphincter dyssynergia; HSCT, hematopoietic stem cell transplant; NDO, neurogenic detrusor overactivity; NTDO, neurogenic terminal detrusor overactivity; P_det, detrusor pressure; Q_max, peak urinary flow rate

ISSN: 1750-1172