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15. List B – Permanent conditions for which functional capacity are variable and further assessment of functional capacity is generally required

1. Conditions primarily resulting in Intellectual/ learning impairment

  • Intellectual disability
  • Pervasive developmental disorders not meeting severity criteria in List A or List C
  • Asperger syndrome
  • Atypical autism
  • Childhood autism

Chromosomal abnormalities resulting in permanent impairment and not specified on List A:

  • Aicardi-Goutières syndrome
  • CHARGE syndrome
  • Cockayne syndrome Types I and Type II/Cerebro-oculo-faciao-skeletal (COFS) syndrome /Pena Shokeir syndrome Type II/Weber-Cockayne syndrome/Neill-Dingwall syndrome)
  • Cohen syndrome
  • Dandy-Walker syndrome
  • DiGeorge syndrome /22q11.2 deletion syndrome/Velocardiofacial syndrome/ Shprintzen syndrome/Conotruncal anomaly face syndrome
  • Down syndrome
  • Fragile X syndrome
  • Kabuki syndrome
  • Menkes disease
  • Prader-Willi syndrome
  • Seckel syndrome /microcephalic primordial dwarfism/Harper’s syndrome/Virchow-Seckel dwarfism
  • Smith-Lemli-Optiz syndrome
  • Smith-Magenis syndrome
  • Spinal muscular atrophy Types III and IV
  • Sturge-Weber syndrome
  • Trisomy 9
  • Tuberous sclerosis
  • Turner syndrome
  • Williams syndrome
  • Wolf-Hirschhorn syndrome

2. Conditions primarily resulting in Neurological impairment

  • Alzheimer’s dementia
  • Creutzfeldt-Jakob disease
  • HIV dementia
  • Huntington’s disease
  • Multi-infarct dementia
  • Parkinson’s disease
  • Post-polio syndrome
  • Vascular dementia

Systemic atrophies primarily affecting the central nervous system:

  • Abetalipoproteinaemia
  • Adult-onset spinal muscular atrophy/late-onset SMA type III)
  • Fazio-Londe disease/Progressive bulbar palsy of childhood
  • Friedrich’s ataxia
  • Hereditary spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11Huntington’s disease/Huntington’s chorea
  • Louis-Bar syndrome/Ataxia-telangiectasia
  • Motor neuron disease/Motor neurone disease/ Lou Gehrig’s disease /Amyotrophic lateral sclerosis
  • Primary lateral sclerosis
  • Progressive bulbar palsy
  • Spinal muscular atrophy – all types
  • Spinocerebellar Ataxia – all types, including Machado-Joseph disease

Extrapyramidal and movement disorders

  • Hallervorden-Spatz syndrome /Pantothenate kinase-associated neurodegeneration (PKAN)/neurodegeneration with brain iron accumulation 1 (NBIA 1)
  • Parkinson’s disease
  • Shy-Drager syndrome /Multiple System Atrophy /Striatonigral degeneration (MSA-P)/ Sporadic olivopontocerebellar atrophy (MSA-C)
  • Steele-Richardson-Olszewski syndrome/Progressive supranuclear ophthalmoplegia
  • Stiff-man syndrome /Stiff-person syndrome

Other degenerative diseases of the nervous system

  • Alzheimer’s disease
  • Alpers disease/Grey-matter degeneration/Alpers syndrome/progressive sclerosing poliodystrophy/progressive infantile poliodystrophy
  • Lewy body dementia
  • Pick’s disease

Demyelinating diseases of the central nervous system

  • Adrenoleukodystrophy
  • Multiple sclerosis
  • Schilder’s disease /Diffuse myelinoclastic sclerosis – non-remitting

Episodic and paroxysmal disorders

  • Brain stem stroke syndrome
  • Cerebellar stroke syndrome
  • Motor and sensory lacunar syndromes
  • Lennox syndrome /Lennox-Gastaut syndrome
  • West’s syndrome

Polyneuropathies and other disorders of the peripheral nervous system

  • Adult Refsum disease
  • Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy/ peroneal muscular atrophy
  • Dejerine-Sottas disease /Dejerine-Sottas syndrome/Dejerine-Sottas neuropathy/progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy
  • Infantile Refsum disease

Other disorders of the nervous system

  • Hydrocephalus
  • Multiple system atrophy

3. Conditions resulting in Physical impairment

  • Amputations
  • Congenital absence of limb or part thereof
  • Epidermolysis bullosa
  • Harlequin type icthyosis
  • Juvenile arthritis / Stills Disease (excluding monocyclic/self-limited Adult Onset Stills disease)
  • Rheumatoid arthritis

Diseases of myoneural junction and muscle

  • Andersen-Tawil syndrome/ Periodic paralysis /myoplegia paroxysmalis familiaris
  • Becker muscular dystrophy
  • Congenital muscular dystrophy
  • Distal muscular dystrophy
  • Duchenne muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle muscular dystrophy
  • Mitochondrial myopathy
  • Myotonic dystrophy /dystrophia myotonica
  • Myotonic muscular dystrophy
  • Myotubular myopathy
  • Oculopharyngeal muscular dystrophy
  • Paramyotonia Congenita
  • Thomsens disease /Congenital myotonia/ Becker myotonia)

Cerebral palsy and other paralytic syndromes not meeting severity criteria on List A

  • Cerebral palsy
  • Diplegia
  • Hemiplegia
  • Monoplegia
  • Paraplegia
  • Quadriplegia
  • Tetraplegia

4. Conditions resulting in Sensory and/or Speech impairment

Disorders of the choroid and retina where permanent blindness diagnostic and severity criteria on List A are not met:

  • Behr’s syndrome
  • Kearns-Sayre syndrome
  • Optic atrophy
  • Retinitis pigmentosa
  • Retinoschisis (degenerative and hereditary types/juvenile retinoschisis)
  • Stargardt disease
  • Usher syndrome

Disorders resulting in hearing loss

  • Cortical deafness
  • Pendred syndrome
  • Sensorineural hearing loss
  • Stickler syndrome
  • Usher syndrome
  • Waardenburg syndrome

5. Conditions resulting in multiple types of impairment

  • Aceruloplasminemia
  • Addison-Schilder disease /Adrenoleukodystrophy
  • Albinism
  • Arginosuccinic aciduria
  • Aspartylglucosaminuria
  • Cerebrotendinous xanthomatosis /cerebral cholesterosis
  • Congenital cytomegalovirus infection
  • Congenital iodine-deficiency syndrome /cretinism
  • Congenital rubella syndrome
  • Glycine encephalopathy /non-ketotic hyperglycinaemia
  • GM1 gangliosidosis
  • Hartnup disease
  • Homocystinuria
  • Lowe syndrome/ Oculocerebrorenal syndrome
  • Mannosidosis
  • Menkes disease
  • Mucolipidosis II /I-cell disease
  • Mucolipidosis III /pseudo-Hurler polydystrophy
  • Mucolipidosis IV
  • Neuronal ceroid lipofuscinosis (NCL)/ Adult type (Kuf’s or Parry’s disease)/ Juvenile (Batten disease)/ Late infantile (Jansky-Bielschowsky)
  • Niemann-Pick disease
  • Pyruvate carboxylase deficiency
  • Pyruvate dehydrogenase deficiency
  • Sialidosis
  • Sulfite oxidase deficiency

The following mucopolysaccharidoses:

  • Scheie syndrome /MPS 1-H
  • Hurler-Scheie syndrome /MPS 1 H-S
  • Hunter syndrome /MPS II
  • Morquio syndrome /MPS IVA
  • Maroteaux-Lamy syndrome /MPS VI
  • Sly syndrome /MPS VII

Congenital conditions – cases where malformations cannot be corrected by surgery or other treatment and result in permanent impairment but with variable severity:

  • Arnold-Chiari Types 2 and 3/Chiari malformation
  • Microcephaly
  • Fetal alcohol syndrome
  • Fetal hydantoin syndrome
  • Spina bifida
  • VATER syndrome /VACTERL association