IllnessMyopathy, distal; differential diagnosis

NGS +

{Sanger]

Distal myopathy or distal muscular dystrophy is a general term for a larger group of rare, progressive genetic disorders characterized by weakness and atrophy of the distal skeletal muscles, including the muscles of the forearms, legs, hands and feet. Although the condition can occur from infancy to adulthood, most forms develop later in life and progress slowly. The roughly 30 myopathies include disorders affecting different muscle groups, and they vary in age of onset, severity and mode of inheritance. Proximal muscles of the thighs and upper arms remain often normal. Distal Laing myopathy e.g. progresses very slowly with normal life expectancy. Tibial muscular dystrophy typically occurs also after age 35. 10-20 years later, the extensor muscles of the toes may weaken, but most affected individuals remain ambulatory throughout life. In very few cases that begin in childhood, these patients may have generalized muscle symptoms, including quadriceps femoris and arm muscles. Most people with inclusion body myopathy 2 require a wheelchair within 20 years. In addition to the general symptoms seen in the other forms, a distinctive feature of distal myopathy 2 is weakness of the vocal cords and pharynx, the voice changes and dysphagia may occur. The mode of inheritance is usually autosomal dominant or recessive, rarely X chromosomal. Since the DNA diagnostic yield ususally is <60%, a negative test result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1433/

https://www.ncbi.nlm.nih.gov/books/NBK1323/

https://www.ncbi.nlm.nih.gov/books/NBK1262/

https://www.ncbi.nlm.nih.gov/books/NBK1303/

• Alias: Distal muscular dystrophy
• Alias: Distal myopathy
• Allelic: Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
• Allelic: Androgen insensitivity (AR)
• Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
• Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
• Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Bethlem myopathy 2 (COL12A1)
• CAP myopathy 1 (TPM3)
• CAP myopathy 2 (TPM2)
• Central core disease (RYR1)
• Centronuclear myopathy 1 (DNM2)
• Deafness, XL 4 (SMPX)
• Facioscapulohumeral muscular dystrophy 3, digenic (LRIF1)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Laing distal myopathy (MYH7)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Miyoshi muscular dystrophy 1 (DYSF)
• Miyoshi muscular dystrophy 3 (ANO5)
• Muscular dystrophy, AR, with rigid spine + distal joint contractures (TOR1AIP1)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Muscular dystrophy, limb-girdle, AR (TTN)
• Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Muscular dystrophy, limb-girdle, AR 7 (TCAP)
• Myopathy, XL, with postural muscle atrophy (FHL1)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, congenital, with fiber-type disproportion (TPM3)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, distal, 4 (FLNC)
• Myopathy, distal, 5 (ADSS1 syn. ADSSL1)
• Myopathy, distal, 6, adult onset (ACTN2)
• Myopathy, distal, 7, adult-onset, XL (SMPX)
• Myopathy, distal, Tateyama type (CAV3)
• Myopathy, distal, with anterior tibial onset (DYSF)
• Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, 5 (FLNC)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, myosin storage, AD or AR (MYH7)
• Myopathy, scapulohumeroperoneal (ACTA1)
• Myopathy, spheroid body (MYOT)
• Nemaline myopathy 1, AD or AR (TPM3)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 11, AR (MYPN)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD or AR (ACTA1)
• Nemaline myopathy 4, AD (TPM2)
• Nemaline myopathy 5, Amish type (TNNT1)
• Nemaline myopathy 6, AD (KBTBD13)
• Nemaline myopathy 7, AR (CFL2)
• Nemaline myopathy 8, AR (KLHL40)
• Nemaline myopathy 9 (KLHL41)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Neuronopathy, distal hereditary motor, type IIA (HSPB8)
• Neuronopathy, distal hereditary motor, type IIB (HSPB1)
• Nonaka myopathy (GNE)
• Peripheral neuropathy, myopathy, hoarseness, and hearing loss (MYH14)
• Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Rippling muscle disease 2 (CAV3)
• Salih myopathy (TTN)
• Scapuloperoneal myopathy, XLD (FHL1)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
• Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
• Tibial muscular dystrophy, tardive (TTN)
• Ullrich congenital muscular dystrophy 2 (COL12A1)
• Welander distal myopathy (TIA1)