Hearing impairment, and Skeletal muscle atrophy

Diseases related with Hearing impairment and Skeletal muscle atrophy

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

Top matches:

Other less relevant matches:

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

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

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 18

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy|fshd|landouzy-dejerine myopathy|facioscapulohumeral muscular dystrophy|facioscapulohumeral myopathy

Related symptoms:

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis


SOURCES: ORPHANET MENDELIAN

More info about FACIOSCAPULOHUMERAL DYSTROPHY

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B Is also known as cmt1b

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Top 5 symptoms//phenotypes associated to Hearing impairment and Skeletal muscle atrophy

Symptoms // Phenotype % cases
Pes cavus Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Distal muscle weakness Muscle weakness Peripheral axonal neuropathy Hammertoe

Rare Symptoms - Less than 30% cases

Distal sensory impairment Sensory impairment Elevated serum creatine phosphokinase Abnormality of the foot Decreased motor nerve conduction velocity Foot dorsiflexor weakness Limb muscle weakness Distal amyotrophy Hyporeflexia of lower limbs Dysmetria Abnormal pupil morphology Sensorimotor neuropathy Lower limb hyperreflexia Muscle fibrillation Increased CSF protein Head tremor Skeletal muscle hypertrophy Titubation Abnormality of cardiovascular system morphology Abnormal eyelash morphology Hyperlordosis Decreased nerve conduction velocity Motor delay EMG abnormality Scoliosis Mask-like facies Abnormality of the retinal vasculature Cerebellar atrophy Palpebral edema Gait ataxia Fatigue Dysarthria Talipes calcaneovalgus Tremor Difficulty walking Paralysis Hoarse voice Spinal muscular atrophy Vocal cord paralysis Vocal cord paresis Sensory neuropathy Split hand Steppage gait Abnormal cerebellum morphology Nystagmus Sensory axonal neuropathy Absent Achilles reflex Difficulty standing Weakness of the intrinsic hand muscles Gait disturbance Proximal muscle weakness Hip dislocation Vertigo Congenital hip dislocation Easy fatigability Increased muscle fatiguability Peripheral dysmyelination


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ichthyosis, related diseases and genetic alterations Frontal bossing and Splenomegaly, related diseases and genetic alterations Microphthalmia and Colon cancer, related diseases and genetic alterations Macrocephaly and Apraxia, related diseases and genetic alterations Brachydactyly and Aggressive behavior, related diseases and genetic alterations Muscle weakness and Agenesis of corpus callosum, related diseases and genetic alterations