Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Table 2 Differential diagnoses of IOPD

Shared symptoms between IOPD and other disorders
Disorder	Shared symptoms with IOPD
Spinal muscular atrophy \| (acute Werdnig–Hoffman disease)	Hypotonia
	Progressive proximal muscle weakness
	Absence of reflexes
	Difficulties in feeding
	Elevated levels of CK
Congenital muscular dystrophy	Severe hypotonia
Congenital muscular dystrophy	Severe weakness in muscles
Hypothyroidism	Hypotonia
Hypothyroidism	Enlarged tongue (macroglossia)
Endocardial fibroelastosis	Dyspnea (breathlessness)
	Difficulties in feeding
	Enlarged heart (cardiomegaly)
	Heart failure
Danon disease	Hypertrophic cardiomyopathy
	Skeletal muscle myopathy
	Vacuolar glycogen storage
	Elevated levels of CK
Carnitine deficiency	Cardiomyopathy
Carnitine deficiency	Weakness in muscle
Glycogen storage diseases III and IV	Enlarged heart (cardiomegaly)
	Weakness in muscle
	Elevated levels of CK
	Enlarged liver (hepatomegaly)
	Hypotonia
Idiopathic hypertrophic cardiomyopathy	Biventricular hypertrophy
Myocarditis	Enlarged heart (cardiomegaly)
Mitochondrial/respiratory chain disorders	Enlarged liver (hepatomegaly)
	Cardiomyopathy
	Myopathy
	Elevated levels of CK
Peroxisomal disorders	Hypotonia
Peroxisomal disorders	Enlarged liver (hepatomegaly)

ISSN: 1750-1172