Table 2.

Most frequent patients/parents reported symptoms^*.

Constitutiona l		Musculoskeleta l		Neurological		Gastro-Intestinal		Cardiac		Other
High Frequency symptoms (in >50% of patients)
Chronic fatigue	61 %			Weakness	50%
Medium frequency symptoms (in 25–50% of patients)
Tempera ture instabilit y Exercise intoleran ce	48 % 42.5 %	Myalgia	38 %	Ptosis Headaches/Mi graines Developmenta l delay /Intellectual disability	30% 28% 27%	Irritable bowel syndrome Dysphagia	33% 25%			Anxiety	25%
Low frequency symptoms (in <25% of patients)
Difficult y gaining weight Growth delay Cachexi a Lipoma	12 % 6% 5% 3%	Myoglobin uria Rhabdomy olysis	1.5 % 2%	Myoclonus PEO Seizures Ataxia Neuropathy Hypotonia Spasticity Dysarthria Optic Atrophy Dystonia Hearing loss Stroke/TIA Developmental regression Autism Dementia	20 % 17 % 17 % 17 % 17 % 15 % 15 % 15 % 11 % 10 % 9% 7% 5.5 % 8% 3.7 %	Gastroparesi s GI dysmotility Nausea/Vo miting Pseudoobstr uction Steatosis Pancreatic dysfunction Hepatopathy	23% 14% 12%5 % 4.5% 3% 2%	Arrhythmia s SOB Syncope Cardiomyo pathy	18 % 11 % 6 % 4 %	Depression Thyroid disease Diabetes Short stature Parathyroi d disease Hypogona dism Delayed puberty Renal tubulopath y	19 % 9 % 7 % 7 % 7 % 2 % 3 % 2 %

^*patients reported more than one symptom at a time. For most patients a combination of constitutional, musculoskeletal, neurological and gastro-intestinal complaints were reported in combination.