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Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
Distal spinal muscular atrophy with vocal cord paralysis. Distal hereditary motor neuronopathy type 7A (DHMN7A) Harper–Young myopathy; 158580: SLC5A7: 2q12.3: Autosomal dominant: Adult-onset with vocal cord paralysis, very rare Congenital distal spinal muscular atrophy. Distal hereditary motor neuronopathy type 8 (DHMN8) 600175: TRPV4: 12q24 ...
Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs.
In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. [1] It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause.
Spinal and bulbar muscular atrophy; Spinal cord injury; Spinal cord tumors; Spinal muscular atrophy; Spinal muscular atrophy with respiratory distress type 1 – see Distal spinal muscular atrophy type 1; Spinocerebellar ataxia; Split-brain; Steele–Richardson–Olszewski syndrome – see Progressive supranuclear palsy; Stiff-person syndrome ...
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