Muscle weakness, and Spinal muscular atrophy

Low match AUTOSOMAL DOMINANT ADULT-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY

Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting.See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4 ), caused by defect in the SMN1 gene (OMIM ), and autosomal dominant childhood-onset proximal SMA (OMIM ).

AUTOSOMAL DOMINANT ADULT-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY Is also known as spinal muscular atrophy, proximal, adult, autosomal dominant|autosomal dominant adult-onset proximal sma|autosomal dominant late-onset spinal muscular atrophy, finkel type|finkel late-adult type sma|finkel disease|smafk

• Muscle weakness
• Skeletal muscle atrophy
• Areflexia
• Hyporeflexia
• Proximal muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

Low match X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as x-linked dhmn3|atp7a-related distal motor neuropathy|dsmax|x-linked distal hereditary motor neuropathy type 3|smax3|spinal muscular atrophy, distal, x-linked recessive|x-linked dsma3

• Peripheral neuropathy
• Skeletal muscle atrophy
• Gait disturbance
• Hyporeflexia
• Pes cavus

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

• Muscle weakness
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Skeletal muscle atrophy

SOURCES: ORPHANET OMIM MENDELIAN

Low match SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4

SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 Is also known as spinal muscular atrophy, proximal, adult, autosomal recessive|spinal muscular atrophy, adult form

• Muscle weakness
• Skeletal muscle atrophy
• Tremor
• Areflexia
• Proximal muscle weakness

SOURCES: OMIM MENDELIAN

Low match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2

Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2 Is also known as hmnj|dhmn2|distal spinal muscular atrophy type 2|neuronopathy, distal hereditary motor, jerash type|neuropathy, distal hereditary motor, jerash type|dsma2|spinal muscular atrophy, jerash type

• Muscle weakness
• Peripheral neuropathy
• Skeletal muscle atrophy
• Hyporeflexia
• Babinski sign

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

• Generalized hypotonia
• Muscle weakness
• Peripheral neuropathy
• Skeletal muscle atrophy
• Gait disturbance

SOURCES: ORPHANET OMIM MENDELIAN

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as muscular atrophy, juvenile|sma3|spinal muscular atrophy, mild childhood and adolescent form|kugelberg-welander syndrome|sma iii|kugelberg-welander disease|sma-iii|juvenile spinal muscular atrophy|sma type 3|sma type iii|kws

• Muscle weakness
• Skeletal muscle atrophy
• Hyporeflexia
• Proximal muscle weakness
• Muscular dystrophy

SOURCES: ORPHANET OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D Is also known as charcot-marie-tooth disease, neuronal, type 2d|charcot-marie-tooth neuropathy, type 2d|cmt2d

• Scoliosis
• Muscle weakness
• Peripheral neuropathy
• Skeletal muscle atrophy
• Tremor

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A

Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A Is also known as spinal muscular atrophy, distal, with vocal cord paralysis|neuropathy, distal hereditary motor, type viia|hmn viia|dhmn7a|harper-young myopathy|dhmnvp

• Hearing impairment
• Sensorineural hearing impairment
• Peripheral neuropathy
• Skeletal muscle atrophy
• Tremor

SOURCES: OMIM MESH MENDELIAN

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D

Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D Is also known as hmn iid|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|dhmn2d|neuropathy, distal hereditary motor, type iid

• Pain
• Skeletal muscle atrophy
• Pes cavus
• Pes planus
• Difficulty walking

SOURCES: OMIM MENDELIAN