Table 1.

List of clinical features reported in MNGIE.

Features	Sign/symptom	Frequency
Neurological	Peripheral neuropathy	+++
	Hearing loss	++
	Leukoencephalopathy	+++
	Seizures	+
	Migraine	+
	Anxiety	+
	Depression	+
	Cognitive dysfunction	+
	Dementia	+
	Mental retardation	+
	Memory loss	+
	Ataxia	+
	Trigeminal neuralgia	+
Neuro-ophthalmic	Ophthalmoplegia	+++
	Ophthalmoparesis	+++
	Ptosis	+++
	Glaucoma	+
	Pigmentary retinopathy	+
Muscular	Myopathy	++
	Red ragged fibers	++
Gastrointestinal	Intestinal pseudo-obstruction	++
	Constipation	++
	Abdominal cramps	++
	Nausea	+++
	Emesis	+++
	Borborygmy	++
	Diarrhoea	++
	Dysphagia	+++
	Gastroparesis	+++
	Cachexia	+++
	Weight loss	+++
	Oesophageal varices	++
	Megacolon	+
	Diverticulosis	++
	Intestinal perforation	++
	Peritonitis	++
	Hepatic steatosis	++
	Hepatomegaly	+
	Cirrhosis	+
Endocrine/Metabolic	Diabetes	++
	Hyperlipidaemia	++
	Hypertriglyceridemia	++
	Hypergonadotropic hypogonadism	+
Cardiac	Long QT	+
	Supraventricular tachycardia	+
	Ventricular hypertrophy	+
	Mitral valve prolapse	+
Reproductive	Ovarian failure	+
	Erectile dysfunction	+
	Amenorrhea	+
Haematological	Anaemia	+
Dermatological	Psoriasis	+
Developmental	Short stature	++

+++ indicates a major diagnostic feature of MNGIE, ++ a common clinical presentation and + a sporadic feature.