Table 1.

Rare Neurological Diseases diagnosed and relevant ORPHAcode classification.

Neurodegenerative diseases with dementia	98534	80	23
Rare motor neuron diseases	98503	64	18.7
Rare peripheral neuropathies	98496	30	8.8
Rare diseases of the neuromuscular junction	98491	28	8.2
Rare neuroinflammatory and neuro-immunological disease	182064	19	5.5
Genetic diseases of the skeletal muscle	206634	19	5.5
Neurodegenerative diseases with parkinsonism	306666	11	3.2
Other rare neurodegenerative diseases	182070	10	3
Rare systemic or rheumatologic disease with CNS involvement	98023	10	3
rare movement disorders	102003	10	3
Rare neurodegenerative diseases with chorea	306719	9	2.6
Other rare diseases		9	2.6
Rare vascular diseases of the CNS	71281	8	2.3
Rare ataxias	102002	7	2
Neurocutaneous syndrome with epilepsy	166466	6	1.8
Rare epilepsies	101998	6	1.8
Rare inborn errors of metabolism	68367	4	1.1
Acquired diseases of the skeletal muscle	206638	4	1.1
CNS malformations	98044	2	0.6
Rare headache	98022	2	0.6
Medullar disease	139417	2	0.6
Rare sleep disorder	68354	1	0.3
Rare nervous system tumor	98062	1	0.3

CNS: Central Nervous System; n: number of patients.