Table 1.

Subject demographics (n = 68).

Patient characteristics	No. of patients (%)
Male: Female	29 (43): 39 (57)
Age at onset of first symptom, years	1.6 (0–15.5)*
Organ involvement (n, %)
Central/Peripheral neurologic system	68 (100)
Gastrointestinal	68 (100)
Pulmonary	51 (75)
Muscular	35 (52)
Cardiac	11 (16)
Endocrinologic	9 (13)
Otologic	9 (13)
Ophthalmologic	8 (12)
Nephrologic	8 (12)
Haematologic	2 (3)
Functional capacity (n, %)
Ambulatory	1 (1.5)
Wheelchair bound	1 (1.5)
Bedridden	51 (75)
Expired	15 (22)

*Data is given as mean value (range).