Table 1.

Clinical characteristics

Patient	Sex	Age	Age at onset	Clinical presentation at onset	Progression and current clinical status	Major pattern of muscle involvement	Contractures and spinal involvement	Cardiac involvement	Respiratory involvement	CK U/l	Mutation
1	F	8.3 yrs	<2 yrs	Delayed motor development, poor head control, stands with hyperlordosis.	Never able to run, never able to stand up from sitting position. Wheelchair dependent at age 3 yrs.	Proximally pronounced diffuse weakness.	Spinal rigidity, scoliosis surgery at age 6 yrs 10 mo.	None	BiPAP at age 4 yrs, tracheotomy at age 7 yrs.	337	c.367C>T/ p.H123Y
2	F	2.5 yrs	<1.5 yrs	Delayed motor development, lordotic gait.	Unable to climb stairs, able to walk 50 m.	Predominant proximal muscle weakness, neck weakness, Gowers’ sign.	None	None	None	330	c.367C>T/ p.H123Y
3	F	7 yrs	4 yrs	Frequent falls, difficulties walking, running and getting up from the floor/Gowers’ sign, scapular and pelvic girdle muscular weakness.	Progressive diffuse weakness. Increasing difficulties walking.	Generalized hypotrophy, predominant in upper limbs, scapular winging.	Scoliosis	None	None	114	c.368A>T/ p.H123L
4	F	10 yrs	4 yrs	Frequent falls.	Since age 8 yrs. progressive weakness of proximal and axial muscles, including neck. Scapular winging. Wheelchair dependent at age 10 yrs.	Proximally pronounced weakness of upper limbs and neck, axial muscles.	Contractures of elbows, hand and Achilles tendons. Severe scoliosis.	None	None	513	c.369C>G/ p.H123Q
5	F	11 yrs	3 yrs 8 mo	Frequent falls and abnormal gait.	5 mo after onset increased limb girdle weakness and scapular winging. Dysphagia (gastrostomy at age 10 yrs). Wheelchair dependent at age 8 yrs.	Progressive weakness, pronounced in neck and trunk. Gowers’ sign.	Knee and Achilles contractures, scoliosis.	Slight mitral insufficiency.	Restrictive pulmonary disease, atelectasis at age 8 yrs, BiPAP at night	1080	c.369C>G/ p.H123Q
6	M	3.5 yrs	Between 13 and 17 mo	Head drop. Not able to climb stairs and roll over when lying flat. Scapular muscle hypotrophy, abolished reflexes.	Progressive loss of ambulation and generalized muscle hypotrophy. Unable to walk at current age, Wheelchair dependent at 31 mo of age.	Proximally pronounced weakness, generalized muscle hypotrophy.	Progressive severe contractures at the elbows, knees and Achilles tendons. Mild Scoliosis, no rigid spine.	Cardiac arrest at age 3 yrs.	Non-invasive ventilatory support	2000	c.369C>A/ p.H123Q
7	F	Died at age 6.5 yrs	2 yrs	Frequent falls and mild leg weakness.	Initially treated with i.v. IG and daily prednisone for presumed myositis without improvement. At age 3.5 yrs not able to climb stairs, followed by severe progression and at age 5 yrs inability to sit or ambulate.	Generalized muscle hypotrophy with severe truncal and limb weakness; eventual flaccid paralysis.	No contractures; exam particularly noted for absence of spinal rigidity (very lax thorax).	None	Respiratory insufficiency leading to death.	537	c.395G>T/ p.C132F
8	M	18 yrs	7 yrs	Rigid spine, no weakness nor muscle fatigability, rigidity and contractures at 10 yrs involving neck, elbows and wrists (> right).	Wheelchair dependent at age 14 yrs, sitting only with sacral support.	Predominantly proximal muscle weakness, generalized muscle hypotrophy.	Progressive joint contractures in the neck, the elbows (>left), wrists, knees and lower limbs (>>right). Upper and lower limbs are in flexion. Kyphoscoliosis, Rigid spine.	None	Moderate respiratory difficulties appeared at 17 yrs. Now on BiPAP	1770	c.457T>C/ p.C153R
9	F	34 yrs	30 yrs	Muscle fatigability, difficulties with stairs.	Slowly progressive muscle weakness.	Moderate weakness to the upper limbs.	None	None	None	Normal	c.457T>C/ p.C153R
10	M	21 yrs	5 yrs	Poor walking endurance; frequent falls.	Wheelchair bound at 8 yrs of age.	Predominantly proximal muscle weakness.	Mild scoliosis; tightness of the Achilles tendons but no other severe contractures until the age of 18 yrs (when assessed).	Dilated Cardiomyopathy at 18 yrs (reduced fractional shortening).	Ventilatory support at 11 yrs of age (severe restrictive respiratory insufficiency)	880	c.458G>A/ p.C153Y
11	F	40s	30s	Difficulties with stairs and walking uphill.	Requires wheelchair for longer distances.	Predominantly proximal muscle weakness. Significant asymmetrical wasting of trapezii and shoulder muscles.	None	Normal Echo (6 years ago).	None	n.k.	c.458G>A/ p.C153Y

Patients are listed by their localization of the mutation on the FHL1 gene.

Yrs = years; mo = months; BiPAP = bilevel positive airways pressure. CK = Serum creatine kinase level; < = some motor developmental delay noticed before clear onset of weakness; i.v. = intravenous, IG = immunoglobulin; n.k. = not known.