Hearing impairment, and Distal muscle weakness

Diseases related with Hearing impairment and Distal muscle weakness

In the following list you will find some of the most common rare diseases related to Hearing impairment and Distal muscle weakness that can help you solving undiagnosed cases.

Top matches:

X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6 Is also known as cmt6x|cmtx6|charcot-marie-tooth neuropathy, x-linked dominant, 6

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Is also known as charcot-marie-tooth disease, demyelinating, type 1e|cmt1e|charcot-marie-tooth neuropathy and deafness, autosomal dominant

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

Other less relevant matches:

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N Is also known as cmt2n|charcot-marie-tooth disease, axonal, autosomal dominant, type 2n|charcot-marie-tooth neuropathy, axonal, type 2n

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7 Is also known as myspc|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

Related symptoms:

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as ri-cmt type d

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Pain
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Top 5 symptoms//phenotypes associated to Hearing impairment and Distal muscle weakness

Symptoms // Phenotype % cases
Pes cavus Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Hyporeflexia Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Distal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Steppage gait Abnormality of the foot Foot dorsiflexor weakness Gait disturbance Hammertoe Sensory impairment Distal amyotrophy Limb muscle weakness Split hand Ataxia Decreased motor nerve conduction velocity Peripheral axonal neuropathy Tremor Difficulty walking Lower limb muscle weakness

Rare Symptoms - Less than 30% cases

Easy fatigability Polyneuropathy Sensorimotor neuropathy Unsteady gait Sensory axonal neuropathy Elevated serum creatine phosphokinase Impaired pain sensation Proximal muscle weakness Decreased nerve conduction velocity Pain Sensory neuropathy Peripheral demyelination Nystagmus Onion bulb formation Areflexia of lower limbs Cerebral atrophy Frequent falls Falls Global developmental delay Flexion contracture Demyelinating peripheral neuropathy Axonal loss Horizontal nystagmus Intellectual disability Postural instability Scoliosis Lactic acidosis Babinski sign Cerebellar atrophy Progressive cerebellar ataxia Waddling gait Clumsiness Gowers sign Myopathy Dysarthria Cognitive impairment Motor delay Spasticity Generalized hypotonia Motor axonal neuropathy Sleep disturbance Inability to walk Kyphosis Increased serum lactate Reduced tendon reflexes Kyphoscoliosis Talipes calcaneovalgus Hip dislocation Fatigue Weakness of the intrinsic hand muscles Difficulty standing Absent Achilles reflex Abnormal cerebellum morphology Vocal cord paresis Congenital hip dislocation Vocal cord paralysis Spinal muscular atrophy Hoarse voice Paralysis Hand muscle weakness Distal lower limb muscle weakness Hand tremor Vertigo Increased muscle fatiguability Acidosis Restless legs Dystonia Limb fasciculations Ulnar claw Upper limb amyotrophy Chronic axonal neuropathy Impaired temperature sensation EMG: chronic denervation signs Distal lower limb amyotrophy Talipes equinovarus EMG: neuropathic changes Sleep apnea Fasciculations Muscle cramps Paresthesia Talipes Apnea Axonal degeneration


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