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Patient population


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Please fill out the table providing the approximate number of patients per age group regularly seen at your site.

This information is very relevant in most enquiries. Even if you don't know the exact patient numbers, please provide the best estimates.

Neuromuscular diseases

Total patients neuromuscular diseasesUnder 18 yrs18 yrs and older
calculated from below

DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Duchenne muscular dystrophy (DMD) ORPHA:98896
Becker muscular dystrophy ORPHA:98895
Limb girdle muscular dystrophies (LGMD) ORPHA:263
Congenital muscular dystrophies (CMD) ORPHA:97242
Congenital myopathies (CM) ORPHA:97245
Facioscapulohumeral muscular dystrophy (FSHD) ORPHA:269
Myotonic dystrophy 1 (DM1) ORPHA:273
Myotonic dystrophy 2 (DM2) ORPHA:606
Other genetic skeletal muscle diseases ORPHA:206634this question has been deprecated
Inflammatory and autoimmune skeletal muscle diseases ORPHA:206638
Total patients skeletal muscle diseaseUnder 18 yrs18 yrs and older
calculated from above


DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Spinal muscular atrophy (SMA) Type I ORPHA:83330
Spinal muscular atrophy (SMA) Type II ORPHA:83418
Spinal muscular atrophy (SMA) Type III or IV ORPHA:83419
Spinal muscular atrophy (SMA) patients identified by NBS ORPHA:70
Genetic forms of ALS (motor neuron diseases) ORPHA:98505
Sporadic amyotrophic lateral sclerosis (ALS) ORPHA:98506
Acquired motor neuron diseasesthis question has been deprecated
Total patients motor neuron diseaseUnder 18 yrs18 yrs and older
calculated from above


DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Genetic periodic paralysis ORPHA:371433
Congenital myotonia ORPHA:206973
Episodic weakness with ataxia and/or migraine ORPHA:211062this question has been deprecated (see Hereditary episodic ataxia (EA) in the NDD section)
Other muscular channelopathies ORPHA:71864this question has been deprecated
Total patients muscular channelopathyUnder 18 yrs18 yrs and older
calculated from above


DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Congenital myasthenic syndromes ORPHA:590
Acquired neuromuscular junction diseases (MG / LEMS) ORPHA:98494
Total patients neuromuscular junction diseaseUnder 18 yrs18 yrs and older
calculated from above


DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Genetic sensory motor neuropathies/CMT ORPHA:166
Acquired peripheral neuropathies ORPHA:182086
Total patients peripheral neuropathyUnder 18 yrs18 yrs and older
calculated from above


DiseasePatientsApproximate number per age group (years)
0-23-1112-1718-4545+
Mitochondrial myopathy ORPHA:206966
Total patients mitochondrial disordersUnder 18 yrs18 yrs and older
calculated from above



Neurodegenerative diseases

Total patients neurodegenerative diseasesUnder 18 yrs18 yrs and older
calculated from below

DiseasePatientsApproximate number per age group (years)
0-11 12-1718-3031-4546-6061+  
Spinocerebellar ataxia 1 (SCA 1)
Spinocerebellar ataxia 2 (SCA 2)
Spinocerebellar ataxia 3 (SCA 3)
Spinocerebellar ataxia 6 (SCA 6)
Spinocerebellar ataxia 7 (SCA 7)
Other spinocerebellar ataxias
Hereditary episodic ataxia (EA)
Ataxia teleangiectatica (AT)
Early onset cerebellar ataxia (EOA)
Friedreich ataxia (FA)
Multiple system atrophy (MSA)
Sporadic adult onset ataxia (SAOA)
Paraneoplastic cerebellar degeneration (PNS)
Huntington's Disease (HD)
Frontotemporal dementia (FTLD)
Hereditary spastic paraplegia (HSP)

Total patients neurodegenerative diseasesUnder 18 yrs18 yrs and older
calculated from above



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