PD phenotype
|
Reported clinical manifestation
|
# of articles
|
Infantile-Onset Pompe Disease (IOPD)
|
Growth
|
Low body weight
|
2
|
Delay in development
|
1
|
Head & Neck
|
Macroglossia
|
2
|
Weakness of and inability to control neck muscles
|
2
|
Dysarthria with nasal speech
|
1
|
Enlarged lips
|
1
|
Feeble cry
|
1
|
Swelling of gingiva
|
1
|
Eyes
|
Imparied vision
|
1
|
Multi-directional nystagmus
|
1
|
Ptosis
|
1
|
Ears
|
Hearing impairment
|
1
|
Cardiovascular System
|
Hypertrophic cardiomyopathy / Severe infantile hypertrophic cardiomyopathy
|
7
|
Cardiomegaly
|
2
|
Cardiomyopathy
|
2
|
Arrhythmias (e.g., no sustained and sustained supraventricular tachycardia, atrial or ventricular premature beats, and ventricular tachycardia or fibrillation)
|
1
|
Cardiac failure
|
1
|
Cardiac murmur
|
1
|
Dilated cardiomyopathy (e.g., right atrial enlargement and biventricular hypertrophy)
|
1
|
Left ventricular thrombus based at the mitral valve
|
1
|
Mild ventricular dysfunction
|
1
|
Outflow tract obstruction
|
1
|
Reduced ejection fraction
|
1
|
Small ventricular lumen
|
1
|
Systolic bruit
|
1
|
Respiratory System
|
Respiratory distress
|
4
|
Dyspnea
|
2
|
Recurrent airway infections / Recurring respiratory infections
|
2
|
Respiratory failure
|
2
|
Tachypnea
|
2
|
Inspiratory and expiratory muscle weakness
|
1
|
Obstructive sleep apnoea
|
1
|
Severe pneumonia
|
1
|
Digestive System
|
Feeding difficulties in infancy, including breast feeding
|
3
|
Gastric reflux
|
1
|
Genitourinary System
|
Urinary tract infection
|
1
|
Muscles & Limbs
|
Hypotonia (including generalized, axial, and proximal)
|
7
|
Muscular weakness (including generalized and distal)
|
4
|
Motor retardation and paucity of movements
|
2
|
Hypo- or areflexia (e.g., decreased, or absent deep tendon reflex)
|
1
|
Nervous System
|
Extra-axial cerebrospinal fluid accumulation
|
1
|
Gross and fine motor delay
|
1
|
Delays in speech and social skills
|
1
|
Ventricular enlargement
|
1
|
Unsteady gait
|
1
|
White matter abnormalities (e.g., supratentorial, infratentorial)
|
1
|
Miscellaneous
|
Profound sweating
|
1
|
Late-Onset Pompe Disease (LOPD)
|
Head & Neck
|
Mild to severe neck flexion weakness
|
3
|
Chronic headache
|
1
|
Dysphonia
|
1
|
Severe mild facial weakness
|
1
|
Eyes
|
Subnormal visuospatial functioning
|
1
|
Cardiovascular System
|
Systemic hypertension
|
3
|
Episode of syncope
|
1
|
Respiratory System
|
Dyspnea (including at rest, during and after exercise and other physical efforts)
|
11
|
Respiratory failure/insufficiency
|
5
|
Orthopnoea
|
4
|
Apneas (including sleep apnea hypopnea syndrome)
|
2
|
Impaired lung function
|
1
|
Nightime hypoventilation
|
1
|
Restrictive ventilatory deficiency
|
1
|
Recurrent respiratory tract infection
|
1
|
Digestive System
|
Dysphagia (including regurgitation, swelling and feeding difficulties)
|
7
|
Diarrhea
|
3
|
Nausea and vomiting
|
3
|
Belly pain
|
1
|
Bowel incontinence
|
1
|
Constipation
|
1
|
Gas and bloating
|
1
|
Gastroesophageal reflux
|
1
|
Primary biliary cirrhosis
|
1
|
Genitourinary System
|
Renal artery fibromuscular dysplasia
|
1
|
Stenosis of the left renal artery
|
1
|
Muscles and Limbs
|
Progressive muscle weakness (including axial and proximal, in the upper and lower limbs)
|
21
|
Difficulties in rising from a seated and supine
|
5
|
Gait disturbances (e.g., subtle waddling gait, Trendelenburg gait, myopathic gait)
|
5
|
Myalgia (including fibromyalgia-like, exertional, and lower extremity myalgia)
|
5
|
Recurrent falls
|
5
|
Scapular winging
|
5
|
Difficulties to run
|
4
|
Generalized fatigue
|
4
|
Progressive difficulty in climbing stairs
|
4
|
Residual muscle weakness (e.g., in trunk, ptosis, myopathic facies, lumbar lordosis)
|
4
|
Lordosis (including lumbar hyperlordosis)
|
3
|
Walking difficulties (e.g., reduced cadence and speed)
|
3
|
Hypotrophy and atrophy (e.g., of shoulder girdle, pelvic girdle, and paravertebral muscles)
|
2
|
Muscle paralysis (e.g., diaphragmatic and tetraplegia)
|
2
|
Respiratory muscles impairment and weakness
|
2
|
Rigid spine / Rigid spine syndrome
|
2
|
Scoliosis
|
2
|
Acute low-back pain
|
1
|
Camptocormia of the lumbar muscles
|
1
|
Decreased lower limb muscle strength and power
|
1
|
Distal and proximal myopathy
|
1
|
Early deviations in skeletal muscle posture and movement
|
1
|
Global hyporeflexia
|
1
|
Increased thoracic and pelvic mobility (e.g., increased thoracic sway, hip adduction angles)
|
1
|
Left-sided scapula alata
|
1
|
Muscular exertion intolerance
|
1
|
Muscle aches and cramps
|
1
|
Thoracic hyperkyphosis
|
1
|
Vertebrobasilar dolichoectasia
|
1
|
Nervous System
|
Delay and regression in gross motor skills
|
3
|
Sleep Disorders (including hypersomnia)
|
2
|
Acute cerebral stroke
|
1
|
Apathy
|
1
|
Delayed motor development
|
1
|