DIAGNOSTIC SPECTRUM



Muscular Dystrophies
Congenital Muscular Dystrophies
Congenital Myopathies
Distal Myopathies
Metabolic Myopathies
Other Myopathies
HyperCKemias
Myotonic Syndromes
Congenital Myasthenic Syndromes
Spinal Muscular Atrophies & Motor Neuron Diseases
Hereditary Ataxias
Hereditary Cardiomyopathies
Hereditary Motor and Sensory Neuropathies
Neurodegenerative Lysosomal Storage Diseases
Disorders of Neuronal Migration
Hereditary Stroke Disorders
Mitochondrial Disorders (Nuclear Genes)
Mitochondrial Genome Mutation Caused Disorders
Disorders of Optic Nerve & Retina



MUSCULAR DYSTROPHIES
Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (DMD)
Limb-girdle muscular dystrophy, type 1A (MYOT)
Limb-girdle muscular dystrophy, type 1B (LMNA)
Limb-girdle muscular dystrophy, type 1C (CAV3)
Limb-girdle muscular dystrophy, type 2A (CAPN3)
Limb-girdle muscular dystrophy, type 2B (DYSF)
Limb-girdle muscular dystrophy, type 2C (SGCG)
Limb-girdle muscular dystrophy, type 2D (SGCA)
Limb-girdle muscular dystrophy, type 2E (SGCB)
Limb-girdle muscular dystrophy, type 2F (SGCD)
Limb-girdle muscular dystrophy, type 2I (FKRP)
Limb-girdle muscular dystrophy, type 2K (POMT1)
Limb-girdle muscular dystrophy, type 2L (ANO5)
Limb-girdle muscular dystrophy, type 2M (FKTN)
Facioscapulohumeral muscular dystrophy 1, FSHD1 (4q35)
Facioscapulohumeral muscular dystrophy 2, FSHD2 (SMCHD1)
Emery-Dreifuss muscular dystrophy, X-linked (EMD)
Emery-Dreifuss muscular dystrophy, autosomal dominant (LMNA)
Emery-Dreifuss muscular dystrophy, autosomal recessive (LMNA)
Oculopharyngeal muscular dystrophy (PABPN1)

CONGENITAL MUSCULAR DYSTROPHIES
Muscular dystrophy, congenital, merosin-deficient, 1A (LAMA2)
Muscular dystrophy, congenital, 1C (FKRP)
Muscular dystrophy, congenital, 1D (LARGE)
Muscle-Eye-Brain disease (FKRP, POMGNT1, POMT1, POMT2)
Rigid spine syndrome (SEPN1)
Rigid spine muscular dystrophy 1 (SEPN1)
Ullrich congenital muscular dystrophy (COL6A1, COL6A2, COL6A3)
Bethlem myopathy (COL6A1, COL6A2, COL6A3)

CONGENITAL MYOPATHIES
Nemaline myopathy 1 (TPM3)
Nemaline myopathy 3 (ACTA1)
Myotubular myopathy 1 (MTM1)
Myopathy, centronuclear, autosomal dominant (DNM2)
Myopathy, centronuclear, autosomal recessive (BIN1)
Central core disease of muscle (RYR1)
Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3)
Minicore myopathy, severe classic form (SEPN1)
Early-onset myopathy with fatal cardiomyopathy (TTN)
Early-onset myopathy, areflexia, respiratory distress and dysphagia (MEGF10)

DISTAL MYOPATHIES
Distal myopathy with decreased caveolin 3 (CAV3)
Miyoshi muscular myopathy (DSYF)
Miyoshi muscular myopathy 3 (ANO5)
Distal myopathy, with anterior tibial onset (DSYF)
Distal myopathy 1, Laing (MYH7)
Tardive tibial muscular dystrophy, Udd myopathy (TTN)

METABOLIC MYOPATHIES
Glycogen storage disease Type II, Pompe (GAA)
Glycogen storage disease Type V, McArdle (PYGM)
Glycogen storage disease Type VI, Hers (PYGL)
Myoadenylate deaminase deficiency (AMPD1)
Carnitine palmitoyl-transferase deficiency (CPT2)

OTHER MYOPATHIES
Desmin-related myofibrillar myopathy (DES)
X-linked myopathy with postural muscle atrophy (FHL1)
Scapuloperoneal myopathy (FHL1)
Danon disease (LAMP2)
Desmin-related myopathy with Mallory bodies (SEPN1)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (VCP)

HYPERCKEMIA
Idiopathic hyperCKaemia (CAV3)
HyperCKemia (CAPN3, DYSF)
Recurrent acute myoglobinuria, autosomal recessive (LPIN1)

MYOTONIC SYNDROMES
Myotonic dystrophy, type 1, Steinert (DMPK)
Myotonic dystrophy, type 2 (CNBP)
Proximal myotonic myopathy (CNBP)
Rippling muscle disease (CAV3)
Congenital Generalized Lipodystrophy with Muscle Rippling (PTRF)
Episodic ataxia/myokymia syndrome (KCNA1)

CONGENITAL MYASTHENIC SYNDROMES and ION CHANNEL DISORDERS
Multiple pterygium syndrome, Escobar variant (CHRNG)
Multiple pterygium syndrome, lethal type (CHRNG)
Paramyotonia congenita of Von Eulenburg (SCN4A)
Hyperkalemic periodic paralysis (SCN4A)
Hypokalemic periodic paralysis, type 1 (CACNA1S)
Hypokalemic periodic paralysis, type 2 (SCN4A)
Myotonia, potassium-aggravated (SCN4A)
Myotonia congenita (CLCN1)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (RAPSN)
Long QT syndrome-1 (KCNQ1)
Long QT syndrome-2 (KCNH2)
Long QT syndrome-3 (SCN5A)
Brugada syndrome 1 (SCN5A)

SPINAL MUSCULAR ATROPHIES & MOTOR NEURON DISEASES
Spinal muscular atrophy, type I-IV (SMN1)
Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB)
Spinal muscular atrophy with respiratory distress (IGHMBP2)
Spinal and bulbar muscular atrophy, X-linked 1 (AR)
Amyotrophic lateral sclerosis 1 (SOD1)
Amyotrophic lateral sclerosis 2 (ALS2)
Primary lateral sclerosis, juvenile (ALS2)
Amyotrophic lateral sclerosis 8 (VAPB)
Amyotrophic lateral sclerosis 14 (VCP)

HEREDITARY ATAXIAS
Spinocerebellar ataxia 2 (ATXN2)
Spinocerebellar ataxia 3 (ATXN3)
Spinocerebellar ataxia 6 (CACNA1A)
Spinocerebellar ataxia 7 (ATXN7)

HEREDITARY CARDIOMYOPATHIES
Cardiomyopathy, familial hypertrophic (CAV3)
Dilated cardiomyopathy, 1I (DES)
Cardiomyopathy, dilated, 3B, X-linked (DMD)
Cardiomyopathy, familial hypertrophic, 1 (MYH7)
Cardiomyopathy, dilated, 1A (LMNA)
Cardiomyopathy, dilated, 1G (TTN)
Maternal Myopathy and Cardiomyopathy (mt-Genome)
Maternally Inherited Hypertrophic Cardiomyopathy (mt-Genome)
Maternally Inherited Cardiomyopathy (mt-Genome)

HEREDITARY MOTOR & SENSORY NEUROPATHIES
Charcot-Marie-Tooth disease, type 1A (PMP22)
Hereditary neuropathy with pressure palsies (PMP22)
Dejerine-Sottas syndrome (PMP22)
Charcot-Marie-Tooth disease, type 2A2 (MFN2)
Hereditary motor and sensory neuropathy VI (MFN2)
Charcot-Marie-Tooth disease, axonal, type 2B1 (LMNA)
Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
Charcot-Marie-Tooth neuropathy, X-linked (GJB1)
Charcot-Marie-Tooth disease, type 4A (GDAP1)
Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
Giant axonal neuropathy 1 (GAN)

NEURODEGENERATIVE LYSOSOMAL STORAGE DISEASES
Ceroid lipofuscinosis, neuronal, type 1, CLN1 (PPT1)
Ceroid lipofuscinosis, neuronal, type 2, CLN2 (TPP1)
Ceroid lipofuscinosis, neuronal, type 10, CLN10 (CTSD)

HEREDITARY STROKE DISORDERS
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (NOTCH3)

DISORDERS OF OPTIC NERVE & RETINA
Stargardt disease 1 (ABCA4)
Stargardt disease 3 (ELOVL4)
Cone-rod dystrophy 2 (CRX)
Cone-rod dystrophy 3 (ABCA4)
Cone-rod dystrophy 6 (GUCY2D)
Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
Macular dystrophy, vitelliform (BEST1)
Optic atrophy 1, autosomal dominant (OPA1)
Optic atrophy 3, autosomal dominant (OPA3)
Optic atrophy 7, autosomal dominant (TMEM126A)
Leber congenital amaurosis 1 (GUCY2D)
Leber congenital amaurosis 2 (RPE65)
Leber congenital amaurosis 4 (AIPL1)
Leber congenital amaurosis 8 (CRB1)
Retinitis pigmentosa 1 (RP1)
Retinitis pigmentosa 2 (RP2)
Retinitis pigmentosa 3 (RPGR)
Retinitis pigmentosa 4 (RHO)
Retinitis pigmentosa 7 (PRPH2, alias RDS)
Retinitis pigmentosa 11 (PRPF31)
Retinitis pigmentosa 12 (CRB1)
Retinitis pigmentosa 19 (ABCA4)
Retinitis pigmentosa 39 (USH2A)
Retinal cone dystrophy 3B (KCNV2)
Doyne Honeycomb retinal dystrophy (EFEMP1)
Basal laminar drusen (CFH)
Usher Syndrome, type 1B (MYO7A)
Usher Syndrome, type 2A (USH2A)
Usher Syndrome, type 2C (GPR98)
Usher Syndrome, type 2D (DFNB31)
Achromatopsia 2 (CNGA3)
Achromatopsia 3 (CNGB3)
Retinoschisis 1, X-linked, juvenile (RS1)
Ocular albinism, X-linked (OA1, GPR143)
Oculocutaneous albinism 1 (OCA1A, TYR)
Oculocutaneous albinism 2 (OCA2)
Congenital hypotrichosis with juvenile macular dystrophy (CDH3)
Sorsby fundus dystrophy (TIMP3)
Jalili syndrome (Cone-rod dystrophy of the retina and amelogenesis imperfecta) (CNNM4)
Leber's hereditary optic neuropathy, LHON (mt-Genome)
Leber's hereditary optic neuropathy and Dystonia (mt-Genome)
Wolfram Syndrome 1 (WFS1)
Wolfram Syndrome, mitochondrial form (mt-Genome)
Nanophthalmus 2 (MFRP)
Choroideremia (CHM)

DISORDERS OF NEURONAL MIGRATION
Polymicrogyria, bilateral frontoparietal (GPR56)
Lissencephaly, X-linked 1 (DCX)
Lissencephaly 1, LIS1 (PAFAH1B1)

MITOCHONDRIAL DISORDERS (NUCLEAR GENES)
Progressive external ophthalmoplegia, with mtDNA deletions, autosomal dominant 1 (POLG)
Progressive external ophthalmoplegia, with mtDNA deletions, autosomal recessive (POLG)
Alpers syndrome (POLG)
Encephalopathy (POLG)
Leigh Syndrome (NDUFAF2, NDUFA10)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B)
Mitochondrial DNA depletion syndrome, myopathic form (TK2)
Mitochondrial DNA depletion syndrome, hepatocerebral form (DGUOK)
Mitochondrial DNA depletion syndrome, MNGIE type (TYMP)
Pyruvate dehydrogenase E3-binding protein deficiency (PDHX)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency (SCO2)
Progressive external ophthalmoplegia, with mtDNA deletions, autosomal dominant 3 (C10ORF2, TWINKLE)

MITOCHONDRIAL DISORDERS (MITOCHONDRIAL GENOME MUTATION CAUSED)
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
Myoclonic Epilepsy and Ragged Red Muscle Fibers
MERRF/MELAS overlap disease
Myoclonic Epilepsy and Psychomotor Regression
Progressive Encephalopathy
Epilepsy, Strokes, Optic atrophy, & Cognitive decline
Leigh Disease (Maternally Inherited Leigh Syndrome)
Kearns-Sayre Syndrome
Pearson Syndrome
Leber Hereditary Optic Neuropathy
Leber's hereditary optic neuropathy and Dystonia
Mitochondrial Myopathy
Lethal Infantile Mitochondrial Myopathy
Maternally Inherited Diabetes and Deafness
Diabetes insipidus and mellitus with Optic Atrophy and Deafness (Wolfram Syndrome)
Diabetes Mellitus
Non-Insulin Dependent Diabetes Mellitus
Diabetes Mellitus & Deafness
Maternally inherited deafness
Sensorineural Hearing Loss
(Chronic) Progressive External Ophthalmoplegia
Maternal Myopathy and Cardiomyopathy
Maternally Inherited Hypertrophic Cardiomyopathy
Maternally Inherited Cardiomyopathy
Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
Mitochondrial Encephalocardiomyopathy
Alzheimer's Disease
Alzheimer's Disease and Parkinsons's Disease
Dementia and Chorea
Familial Bilateral Striatal Necrosis
Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa
Seizures/Lacticacidemia
Tubulointerstitial nephritis
Ataxia, Myoclonus and Deafness
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