Table 1

Patients’ clinical characteristics

Patient/sex /age	Age at symptom onset (y)	Age at first operation (y)	Family history	Main symptoms	Non-GI involved	Nutritional status	Pathology
1. RA F/26	<10	19	Nil	C,P	Nil	PEG feed	Neuropathy
2. PA F/54	<10	45	Nil	C,P,V	Hypothyroid	Normal	Myopathy^a
3. MB F/54	43	43	Nil	P,V	MVR/AVR	IVN	Neuropathy
4. PB M/died	47	47	Nil	P,V	CAH, vitiligo, left sided caecum	Deceased	Myopathy
5. MC M/died	59	61	Nil	P,D,V	Thrombosis	Deceased	Indeterminate
6. LF M/67	52	52	Yes^b	P,C,V, UTI’s	Hydroureters	Normal	Myopathy
7. NG M/30	18 months	13	Nil	P,C,V	Pancreatitis	IVN	Myopathy
8. BH F/37	11	27	Nil	P,V	Nil	Normal	Indeterminate^c
9. KH F/22	17	19	Dystrophy	C,V	Bladder, angio-oedema	Normal	Myopathy
10. WH M/66	35	35	Nil	P	Nil	Normal	Neuropathy
11. CJ M/24	2 weeks	2	Nil	V	Bladder and ureteric distension, undesc. testes, retrograde ejaculation	IVN	Myopathy
12. PM M/49	7	10	Nil	P,C,V	Nil	Normal	Indeterminate
13. JM M/28	13	19	Nil	P,N	Atonic bladder, hydronephrosis	IVN	Myopathy
14. SS F/39	15	16	Yes^d	P	Nil	IVN	Myopathy
15. AS F/46	21	No operation	Nil	C,V,P	Achalasia	IVN	Neuropathy^e
16. BT F/34	15	21	Nil	C,V,P	Nil	Jejunostomy	Myopathy
17. HW M/62	40	58	Nil	P	Barrett’s oesophagus, thrombocytopenia/leucopenia	Normal	Myopathy
18. CW F/33	18	21	Nil	P,D,V	Nil	IVN	Myopathy
19. PA M/58	57	57	Nil	V,D	Deranged LFTs^f	IVN	Myopathy
20. MD M/56	54	55	Nil	V,D	CCF, CRF, hypertension	Normal	Myopathy

C, constipation; P, pain; V, vomiting; N, nausea; D, diarrhoea; IVN, intravenous nutrition; UTI, urinary tract infection; MVR, mitral valve replacement; AVR, aortic valve replacement; CAH, chronic active hepatitis; PEG, percutaneous endoscopic gastrostomy; LFTs, liver function tests; CCF, congestive cardiac failure; CRF, chronic renal failure.
^aAlpha-actin defect in the circular muscle layer.¹³
^bFamily history: one child has megaduodenum and symptoms of gastro-oesophageal reflux, a second child has bilateral megaureters, and a third has unilateral megaureter.³⁷
^cNo histology available.
^dFamily history: probable autosomal dominant inheritance.²⁷
^eNo histology available: based on gut dilatation and small bowel manometry.
^fLiver biopsy shows non-specific reactive changes.